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https://www.readbyqxmd.com/read/28097232/vps34-regulates-myofibril-proteostasis-to-prevent-hypertrophic-cardiomyopathy
#1
Hirotaka Kimura, Satoshi Eguchi, Junko Sasaki, Keiji Kuba, Hiroki Nakanishi, Shunsuke Takasuga, Masakazu Yamazaki, Akiteru Goto, Hiroyuki Watanabe, Hiroshi Itoh, Yumiko Imai, Akira Suzuki, Noboru Mizushima, Takehiko Sasaki
Hypertrophic cardiomyopathy (HCM) is a common heart disease with a prevalence of 1 in 500 in the general population. Several mutations in genes encoding cardiac proteins have been found in HCM patients, but these changes do not predict occurrence or prognosis and the molecular mechanisms underlying HCM remain largely elusive. Here we show that cardiac expression of vacuolar protein sorting 34 (Vps34) is reduced in a subset of HCM patients. In a mouse model, muscle-specific loss of Vps34 led to HCM-like manifestations and sudden death...
January 12, 2017: JCI Insight
https://www.readbyqxmd.com/read/28096325/saphenous-vein-patch-for-correction-of-anomalous-origin-of-the-right-coronary-artery-from-the-left-main-coronary-artery
#2
Obadah F AlQuadan, Moaath M AlSmady, Suhayl S Saleh, Raed A Aqel, Eman T Al-Antary
Anomalous origin of the coronary arteries is a rare congenital heart defect that may lead to disturbed life style, myocardial infarction and sudden death. This report describes a young lady with the right coronary artery arising from the left main coronary artery, which was confirmed by coronary angiography and corrected surgically using saphenous vein patch.
January 17, 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28096098/avoiding-untimely-implantable-cardioverter-defibrillator-implantation-by-intensified-heart-failure-therapy-optimization-supported-by-the-wearable-cardioverter-defibrillator-the-prolong-study
#3
David Duncker, Thorben König, Stephan Hohmann, Johann Bauersachs, Christian Veltmann
BACKGROUND: Optimal timing of implantation of an implantable cardioverter/defibrillator (ICD) after newly diagnosed heart failure is unclear given that late reverse remodelling may occur. We aimed to analyze left ventricular ejection fraction (LVEF) after diagnosis of an LVEF ≤35% during optimization of heart failure drug therapy. METHODS AND RESULTS: One hundred fifty-six patients with newly diagnosed LVEF ≤35% receiving a wearable cardioverter/defibrillator (WCD) were analyzed...
January 17, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28095498/investigation-of-the-fusarium-virguliforme-transcriptomes-induced-during-infection-of-soybean-roots-suggests-that-enzymes-with-hydrolytic-activities-could-play-a-major-role-in-root-necrosis
#4
Binod B Sahu, Jordan L Baumbach, Prashant Singh, Subodh K Srivastava, Xiaoping Yi, Madan K Bhattacharyya
Sudden death syndrome (SDS) is caused by the fungal pathogen, Fusarium virguliforme, and is a major threat to soybean production in North America. There are two major components of this disease: (i) root necrosis and (ii) foliar SDS. Root symptoms consist of root necrosis with vascular discoloration. Foliar SDS is characterized by interveinal chlorosis and leaf necrosis, and in severe cases by flower and pod abscission. A major toxin involved in initiating foliar SDS has been identified. Nothing is known about how root necrosis develops...
2017: PloS One
https://www.readbyqxmd.com/read/28092428/reproducibility-of-clinical-events-adjudications-in-a-trial-of-venous-thromboembolism-prevention
#5
P Girard, A Penaloza, F Parent, B Gable, O Sanchez, P Durieux, P Hausfater, S Dambrine, G Meyer, P-M Roy
BACKGROUND: When clinical trials use clinical endpoints, establishing independent Clinical Events Committees (CEC) is recommended to homogenize the interpretation of investigators data. However, the reproducibility of CEC adjudications is almost unexplored. OBJECTIVES: To assess the reproducibility of CEC adjudications in a trial of venous thromboembolism (VTE) prevention. METHODS: The PREVENU study, a multicenter trial of VTE prevention, included 15,351 hospitalized medical patients...
January 16, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28092299/the-complex-phenotype-of-the-athletes-heart-implications-for-pre-participation-screening
#6
Benjamin Brown, Daniel J Green, Matthew Wilson, Jonathan Drezner, Keith George, David Oxborough
Pre-participation screening is vital to exclude inherited cardiac conditions which have the potential to cause sudden cardiac death in seemingly healthy athletes. Recent research has questioned traditional theories of load-induced, dichotomous cardiac adaptation. We therefore considered whether a "one-size-fits-all" approach to screening can account for inter-individual differences brought about by sporting discipline, training volume, ethnicity, body size, sex and age.
January 13, 2017: Exercise and Sport Sciences Reviews
https://www.readbyqxmd.com/read/28091857/lack-of-heart-rate-variability-during-sleep-related-apnea-in-patients-with-temporal-lobe-epilepsy-tle-an-indirect-marker-of-sudep
#7
C S Nayak, S Sinha, M Nagappa, K Thennarasu, A B Taly
PURPOSE: Apneas occurring during sleep may precipitate autonomic instability in epilepsy patients making them susceptible to sudden death (SUDEP). Literature on heart rate variability (HRV) during apnea among patients with temporal lobe epilepsy (TLE) is sparse. The aim of this study was to characterize the HRV during the peri-apneic period in patients with TLE and compare with HRV of matched healthy individuals during the overnight polysomnographic (PSG) recording. Further, the role of carbamazepine (CBZ) in modulating peri-apneic HRV in the above cohort was also assessed...
January 14, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28089476/serum-asymmetric-and-symmetric-dimethylarginine-and-morbidity-and-mortality-in-hemodialysis-patients
#8
Tariq Shafi, Thomas H Hostetter, Timothy W Meyer, Seungyoung Hwang, Xin Hai, Michal L Melamed, Tanushree Banerjee, Josef Coresh, Neil R Powe
BACKGROUND: Asymmetric (ADMA) and symmetric dimethylarginine (SDMA) are putative uremic toxins that may exert toxicity by a number of mechanisms, including impaired nitric oxide synthesis and generation of reactive oxygen species. The study goal was to determine the association between these metabolites and cardiovascular outcomes in hemodialysis patients. STUDY DESIGN: Post hoc analysis of the Hemodialysis (HEMO) Study. SETTING & PARTICIPANTS: 1,276 prevalent hemodialysis patients with available samples 3 to 6 months after randomization...
January 12, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28088764/prevalence-and-long-term-prognosis-of-patients-with-narrower-than-normal-qrs-complexes
#9
Philippe Maury, Elodie Lematte, Nicolas Derval, Anne Rollin, Vanina Bongard, Alexandre Duparc, Pierre Mondoly, Christelle Cardin, Marie Sadron, Michel Galinier, Didier Carrié, Meleze Hocini, Arnaud Denis, Pierre Jaïs, Frederic Sacher, Michel Haïssaguerre, Jean Ferrieres, Jean Bernard Ruidavets
AIMS: Very narrow QRS have been reported in sudden death survivors but prevalence and prognosis role of narrow QRS is unknown. METHODS AND RESULTS: 546 healthy men between 50 and 60 years (group 1) and 373 similar patients with coronary artery disease (368 men, group 2) underwent signal averaged ECG (SA-ECG) allowing precise measurement of QRS duration. All cause-mortality was determined after 18 ± 3 years follow-up. Mean QRS duration was 97 ± 13 ms in group 1 and 103 ± 16 ms in group 2...
January 14, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28088049/sudden-unexpected-death-in-epilepsy-sudep-disclosure-in-pediatric-epilepsy-an-italian-survey-on-to-tell-or-not-to-tell
#10
Galli Federica, Vignoli Aglaia, Canevini Maria Paola, Cerioli Gabriele, Vegni Elena
BACKGROUND AND OBJECTIVES: Although there has recently been significant debate regarding the importance of disclosing the risk of SUDEP, professional societies and clinical practice guidelines currently recommend that the risk of SUDEP be disclosed as part of a comprehensive epilepsy education program. Therefore, the primary aim of the present study was to examine whether healthcare providers treating pediatric patients with epilepsy in Italy would disclose the risk of SUDEP to the parents of children with epilepsy...
January 11, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28087964/arrythmogenic-right-ventricular-dysplasia
#11
M K Anis Munirah, W K Lim, I M Sharifah Ainon
A 10-year-old well and asymptomatic female was referred for screening of acute right ventricular dilatation (ARVD) as she had an elder brother diagnosed with ARVD whom died of sudden cardiac death. Electrocardiography (ECG), transthoracic echocardiography (TTE) and cardiac magnetic resonance imaging (CMR) were performed. Results of these investigations were suggestive of ARVD. Despite being a rare cardiac disease and largely unrecognised in children and young adult population, ARVD is an important cause of ventricular arrhythmias in this group of patients and is one of the causes of sudden cardiac death (SCD) in this population...
December 2016: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28087824/neuropathology-of-sudep-role-of-inflammation-blood-brain-barrier-impairment-and-hypoxia
#12
Zuzanna Michalak, Dima Obari, Matthew Ellis, Maria Thom, Sanjay M Sisodiya
OBJECTIVE: To seek a neuropathologic signature of sudden unexpected death in epilepsy (SUDEP) in a postmortem cohort by use of immunohistochemistry for specific markers of inflammation, gliosis, acute neuronal injury due to hypoxia, and blood-brain barrier (BBB) disruption, enabling the generation of hypotheses about potential mechanisms of death in SUDEP. METHODS: Using immunohistochemistry, we investigated the expression of 6 markers (CD163, human leukocyte antigen-antigen D related, glial fibrillary acid protein, hypoxia-inducible factor-1α [HIF-1α], immunoglobulin G, and albumin) in the hippocampus, amygdala, and medulla in 58 postmortem cases: 28 SUDEP (definite and probable), 12 epilepsy controls, and 18 nonepileptic sudden death controls...
January 13, 2017: Neurology
https://www.readbyqxmd.com/read/28087566/application-of-whole-exome-sequencing-in-the-clinical-diagnosis-and-management-of-inherited-cardiovascular-diseases-in-adults
#13
Sara B Seidelmann, Emily Smith, Lakshman Subrahmanyan, Daniel Dykas, Maen D Abou Ziki, Bani Azari, Fady Hannah-Shmouni, Yuexin Jiang, Joseph G Akar, Mark Marieb, Daniel Jacoby, Allen E Bale, Richard P Lifton, Arya Mani
BACKGROUND: With the advent of high throughput sequencing, the identification of genetic causes of cardiovascular disease (CVD) has become an integral part of medical diagnosis and management and at the forefront of personalized medicine in this field. The use of whole exome sequencing for clinical diagnosis, risk stratification, and management of inherited CVD has not been previously evaluated. METHODS AND RESULTS: We analyzed the results of whole exome sequencing in first 200 adult patients with inherited CVD, who underwent genetic testing at the Yale Program for Cardiovascular Genetics...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28087308/myocardial-inotropic-reserve-an-old-twist-that-constitutes-a-reliable-index-in-the-modern-era-of-heart-failure
#14
REVIEW
Fragkiskos Parthenakis, Spyridon Maragkoudakis, Maria Marketou, Alexandros Patrianakos, Evaggelos Zacharis, Panos Vardas
Current national and international guidelines, including those of the European Society of Cardiology, recognize that the assessment of prognosis should be a part of the standard management for patients with chronic heart failure (CHF). However, these same guidelines recognize the inherent difficulty of this process. A variety of factors contribute to this difficulty, including the varying etiology, frequent co-morbidity and, perhaps most importantly, huge inter-individual variability in the disease progression and outcome...
November 22, 2016: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
https://www.readbyqxmd.com/read/28079828/vaccination-with-10-valent-pneumococcal-conjugate-vaccine-in-infants-according-to-hiv-status
#15
Shabir A Madhi, Anthonet Koen, Lisa Jose, Nadia van Niekerk, Peter V Adrian, Clare Cutland, Nancy François, Javier Ruiz-Guiñazú, Juan-Pablo Yarzabal, Marta Moreira, Dorota Borys, Lode Schuerman
BACKGROUND: Phase III, open-label, single-center, controlled study in South Africa (ClinicalTrials.gov: NCT00829010) to evaluate immunogenicity, reactogenicity, and safety of the 10-valent pneumococcal non-typeable Haemophilus influenzae protein D conjugate vaccine (PHiD-CV) in human immunodeficiency virus (HIV)-infected (HIV+), HIV-exposed-uninfected (HEU), and HIV-unexposed-uninfected (HUU) children. METHODS: Children stratified by HIV status received PHiD-CV primary vaccination (age 6/10/14 weeks; coadministered with routine childhood vaccines) and booster dose (age 9-10 months)...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28079110/left-ventricular-noncompaction-cardiomyopathy-cardiac-neuromuscular-and-genetic-factors
#16
REVIEW
Josef Finsterer, Claudia Stöllberger, Jeffrey A Towbin
Left ventricular hypertrabeculation (LVHT) or noncompaction is a myocardial abnormality of unknown aetiology, frequently associated with monogenic disorders, particularly neuromuscular disorders, or with chromosomal defects. LVHT is diagnosed usually by echocardiography by the presence of a bilayered myocardium consisting of a thick, spongy, noncompacted endocardial layer and a thin, compacted, epicardial layer. The pathogenesis of LVHT is unsolved, and the diagnostic criteria, prognosis, and optimal treatment of patients with LVHT are under debate...
January 12, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28078575/molecular-imaging-of-atherosclerosis-with-integrated-pet-imaging
#17
Basma Hammad, Nicholas R Evans, James H F Rudd, Ahmed Tawakol
Atherosclerotic diseases account for nearly half of all deaths and are leading causes of adult disability. Our understanding of how atherosclerosis leads to cardiovascular disease events has evolved: from a concept of progressive luminal narrowing, to that of sudden rupture and thrombosis of biologically active atheroma. In concert with this conceptual shift, contemporary imaging techniques now allow imaging of biological processes that associate with plaque instability: active calcification and plaque inflammation...
January 11, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28076990/outcomes-in-the-absence-of-the-ductus-venosus-diagnosed-in-the-first-trimester
#18
Hiroko Takita, Junichi Hasegawa, Tatsuya Arakaki, Shoko Hamada, Mayumi Tokunaka, Masamitsu Nakamura, Ryu Matsuoka, Akihiko Sekizawa
PURPOSE: To clarify the outcomes of the absence of the ductus venosus diagnosed in fetuses suspected to have a structural abnormality during a morphological assessment in the first trimester. METHODS: Infants in whom ultrasound fetal morphological assessments were attempted in the first trimester (11 to 13-6 weeks of gestation) and who were subsequently delivered between 2013 and 2015 at Showa University Hospital were enrolled. In cases in which the absence of the ductus venosus was diagnosed in the first trimester, the prognosis was assessed...
January 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28074983/-role-of-coronary-computed-tomography-angiography-for-the-diagnosis-of-coronary-anomalies
#19
Rienzi Díaz, Jorge Vega
BACKGROUND: Coronary anomalies are rare heart diseases that can cause sudden cardiac death, especially in young individuals. Coronary computed tomography angiography delivers a three-dimensional view of excellent quality with information of the origin, course and anatomic relationships of the anomalous vessel, allowing differentiation between benign and malignant variants, entities that require different management and treatment. AIM: To show that coronary computed tomography angiography is the non-invasive technique of choice for the evaluation of a coronary anomaly due to its high diagnostic accuracy...
October 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/28074886/post-mortem-whole-exome-analysis-in-a-large-sudden-infant-death-syndrome-cohort-with-a-focus-on-cardiovascular-and-metabolic-genetic-diseases
#20
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death...
January 11, 2017: European Journal of Human Genetics: EJHG
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