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Sudden unexplained death

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https://www.readbyqxmd.com/read/29242100/takotsubo-is-not-a-cardiomyopathy
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/29137068/carnitine-acylcarnitine-translocase-deficiency-with-c-199-10-t-g-and-novel-c-1a-g-mutation-two-case-reports-and-brief-literature-review
#8
Hui-Ming Yan, Hao Hu, Aisha Ahmed, Bing-Bing Feng, Jing Liu, Zheng-Jun Jia, Hua Wang
RATIONALE: Carnitine-acylcarnitine translocate deficiency (CACTD) is a rare and life-threatening, autosomal recessive disorder of fatty acid β-oxidation characterized by hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, liver dysfunction, and muscle weakness; culminating in early death. To date, CACTD cases screened from the Chinese mainland population, especially patient with compound heterozygote with c.199-10T>G and a novel c.1A>G mutation in the SLC25A20 gene has never been described...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29132927/whole-exome-sequencing-identified-a-pathogenic-mutation-in-ryr2-in-a-chinese-family-with-unexplained-sudden-death
#9
Yubi Lin, Siqi He, Zili Liao, Ruiling Feng, Ruilin Liu, Yongzheng Peng, Nan Yu, Hang Qi, Jia Chen, Zifeng Huang, Heping Lei, Yang Liu, Fang Rao, Chunyu Deng, Yumei Xue, Guolin Zhang, Bin Zhang, Hua Yao, Shulin Wu
OBJECTIVE: This study aimed to identify the pathogenic mutation in a Chinese family with unexplained sudden death (USD) or occasional syncope. MATERIALS AND METHODS: Whole exome sequencing and target capture sequencing were respectively conducted for two related patients. The genetic data was screened using the 1000 genomes project and SNP database (PubMed), and the identified mutations were assessed for predicted pathogenicity using the SIFT and Polyphen-2 algorithms...
October 10, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/29132773/-maternal-deaths-due-to-sudden-death-results-from-the-french-confidential-enquiry-into-maternal-deaths-2010-2012
#10
E Morau, E Beaumont, E Verspyck
Sudden death is defined as unexpected cardiac arrest occurring less than one hour after the onset of the first symptoms. Between 2010 and 2012, 23 maternal deaths were considered as unexplained sudden deaths and three of them were not evaluated due to a lack of clinical data. In addition, 13 maternal deaths with an identified cause occurred in a clinical context of sudden death (7 cases of pulmonary embolism, 2 cases of epilepsy, and 2 cases of cardiomyopathy). The first maneuvers of resuscitation in the presence of bystanders were attempted in 8 of 22 cases (36%)...
November 10, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29079892/the-genetic-counselor-in-the-pediatric-arrhythmia-clinic-review-and-assessment-of-services
#11
Benjamin M Helm, Samantha L Freeze, Katherine G Spoonamore, Stephanie M Ware, Mark D Ayers, Adam C Kean
There are minimal data on the impact of genetic counselors in subspecialty clinics, including the pediatric arrhythmia clinic. This study aimed to describe the clinical encounters of a genetic counselor integrated into a pediatric arrhythmia clinic. In the 20 months between July 2015 and February 2017, a total of 1914 scheduled patients were screened for indications relevant for assessment by a genetic counselor. Of these, the genetic counselor completed 276 patient encounters, seeing 14.4% of all patients in clinic...
October 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29078160/a-review-of-the-optimisation-of-the-use-of-formalin-fixed-paraffin-embedded-tissue-for-molecular-analysis-in-a-forensic-post-mortem-setting
#12
REVIEW
Kate Megan Reid, Sairita Maistry, Raj Ramesar, Laura Jane Heathfield
Molecular analyses in a post-mortem setting are becoming increasingly common, particularly in cases of sudden unexplained death, with the aim of identifying genetic mutations which may be responsible for causing death. In retrospective investigations, the access to suitable autopsy biological samples may be limited, and often formalin fixed paraffin embedded (FFPE) tissue is the only sample available. The preservation of tissue in formalin is known to damage DNA through crosslinking activity. This results in the extraction of severely fragmented DNA of variable yields, which subsequently reduces the ability to perform downstream molecular analyses...
October 13, 2017: Forensic Science International
https://www.readbyqxmd.com/read/29072989/persistence-of-icd-indication-at-the-time-of-replacement-in-patients-with-initial-implant-for-primary-prevention-indication-effect-on-subsequent-icd-therapies
#13
Gabriele Dell'Era, Anna Degiovanni, Eraldo Occhetta, Andrea Magnani, Miriam Bortnik, Gabriella Francalacci, Laura Plebani, Eleonora Prenna, Sergio Valsecchi, Paolo Marino
BACKGROUND: Indication to implantable cardioverter defibrillator (ICD) for primary prevention of sudden death relies on left ventricular ejection fraction (LVEF). We measured the proportion of patients in whom indication to ICD persisted at the time of generator replacement (GR) and searched for predictors of appropriate therapies after GR. METHODS: We identified all consecutive patients who had received an ICD at our hospital, for LVEF ≤35% and no previous arrhythmias or unexplained syncope...
March 2017: Indian Pacing and Electrophysiology Journal
https://www.readbyqxmd.com/read/29066903/fat-embolism-after-fractures-in-duchenne-muscular-dystrophy-an-underdiagnosed-complication-a-systematic-review
#14
REVIEW
David Feder, Miriam Eva Koch, Beniamino Palmieri, Fernando Luiz Affonso Fonseca, Alzira Alves de Siqueira Carvalho
Duchenne muscular dystrophy is the most frequent lethal genetic disease. Several clinical trials have established both the beneficial effect of steroids in Duchenne muscular dystrophy and the well-known risk of side effects associated with their daily use. For many years it has been known that steroids associated with ambulation loss lead to obesity and also damage the bone structure resulting in the bone density reduction and increased incidence of bone fractures and fat embolism syndrome, an underdiagnosed complication after fractures...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/29058184/hyper-sumoylation-of-k-channels-in-sudden-unexplained-death-in-epilepsy-isolation-and-primary-culture-of-dissociated-hippocampal-neurons-from-newborn-mice-for-subcellular-localization
#15
Xu Chen, Shanshan Zhang, Jifang Huang, Wanying Dong, Hui Xiao, Huanjie Shao, Jinke Cheng, Hongmei Wu, Yitao Qi
The physiological characteristics of rat and murine hippocampal neurons are widely studied, especially because of the involvement of the hippocampus in learning, memory, and neurological functions. Primary cultures of hippocampal neurons are commonly used to discover cellular and molecular mechanisms in neurobiology. By isolating and culturing individual hippocampal neurons, neuroscientists are able to investigate the activity of neurons at the individual cell and single synapse level, and to analyze properties related to cellular structure, cellular trafficking, and individual protein subcellular localization or protein-protein interaction using a variety of biochemical techniques...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29048771/catecholaminergic-polymorphic-ventricular-tachycardia-an-update
#16
REVIEW
Andrés R Pérez-Riera, Raimundo Barbosa-Barros, Marianne P C de Rezende Barbosa, Rodrigo Daminello-Raimundo, Augusto A de Lucca, Luiz C de Abreu
Catecholaminergic polymorphic ventricular tachycardia is a rare devastating lethal inherited disorder or sporadic cardiac ion channelopathy characterized by unexplained syncopal episodes, and/or sudden cardiac death (SCD), aborted SCD (ASCD), or sudden cardiac arrest (SCA) observed in children, adolescents, and young adults without structural heart disease, consequence of adrenergically mediated arrhythmias: exercise-induced, by acute emotional stress, atrial pacing, or β-stimulant infusion, even when the electrocardiogram is normal...
October 19, 2017: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/29047226/babies-in-boxes-and-the-missing-links-on-safe-sleep-human-evolution-and-cultural-revolution
#17
REVIEW
Melissa Bartick, Cecília Tomori, Helen L Ball
Concerns about bedsharing as a risk for sudden infant death syndrome and other forms of sleep-associated infant death have gained prominence as a public health issue. Cardboard "baby boxes" are increasingly promoted to prevent infant death through separate sleep, despite no proof of efficacy. However, baby boxes disrupt "breastsleeping" (breastfeeding with co-sleeping) and may undermine breastfeeding. Recommendations enforcing separate sleep are based on 20th century Euro-American social norms for solitary infant sleep and scheduled feedings via bottles of cow's milk-based formula, in contrast to breastsleeping, an evolutionary adaptation facilitating the survival of mammalian infants for millennia...
October 18, 2017: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/29016939/molecular-autopsy-of-sudden-unexplained-deaths-reveals-genetic-predispositions-for-cardiac-diseases-among-young-forensic-cases
#18
Nicole Hellenthal, Anna Gaertner-Rommel, Bärbel Klauke, Lech Paluszkiewicz, Markus Stuhr, Thoralf Kerner, Martin Farr, Klaus Püschel, Hendrik Milting
Aims: Coronary artery disease accounts for the majority of sudden cardiac deaths (SCD) in the older population whereas cardiomyopathies and arrhythmogenic abnormalities predominate in younger SCD victims (<35 years) with a significant genetic component. The elucidation of the pathogenetic cause of death might be relevant for the prevention of further deaths within affected families. Aim of this study was to determine the portion of underlying genetic heart diseases among unexplained putative SCD cases from a large German forensic department...
November 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28986457/genomic-triangulation-in-sudden-unexplained-death-in-the-young-the-way-to-go
#19
EDITORIAL
Emil Daniel Bartels, Jacob Tfelt-Hansen, Bo Gregers Winkel
No abstract text is available yet for this article.
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28984650/diagnosis-and-clinical-management-of-long-qt-syndrome
#20
Christian Steinberg
PURPOSE OF REVIEW: To give an overview over the substantial advances in the diagnosis and management of Long-QT syndrome since its first description 60 years ago. RECENT FINDINGS: LQT syndrome remains the most common inherited arrhythmia and is a leading cause for sudden unexplained death accounting for up to 20-25% of cases. Rapid progress of genetic technology over the past 2 decades has significantly improved our understanding of molecular and genetic mechanisms of LQT...
October 4, 2017: Current Opinion in Cardiology
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