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Sudden death syndrome

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https://www.readbyqxmd.com/read/29679838/medico-legal-investigation-in-an-explicable-case-of-congenital-central-hypoventilation-syndrome-due-to-a-rare-variant-of-the-phox2b-gene
#1
Francesco Ventura, Rosario Barranco, Tiziana Bachetti, Paolo Nozza, Ezio Fulcheri, Antonella Palmieri, Isabella Ceccherini
The heterozygous PHOX2B gene mutation is related to congenital central hypoventilation syndrome (CCHS). It is characterized by defective autonomous nervous system development leading to inadequate breathing response to hypoxia and hypercapnia, leading to hypoventilation especially during non-REM sleep, but also during waking in the more severe cases. Herein we report a case of sudden death in a 28-day-old child. The mother reported the infant was found lying on her own bed in the prone position. The infant was wearing a romper and lying in her crib without any blanket or other objects...
April 17, 2018: Journal of Forensic and Legal Medicine
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
#2
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/29663054/field-evaluation-of-three-sources-of-genetic-resistance-to-sudden-death-syndrome-of-soybean
#3
Lillian F Brzostowski, Timothy I Pruski, Glen L Hartman, Jason P Bond, Dechun Wang, Silvia R Cianzio, Brian W Diers
Despite numerous challenges, field testing of three sources of genetic resistance to sudden death syndrome of soybean provides information to more effectively improve resistance to this disease in cultivars. Sudden death syndrome (SDS) of soybean [Glycine max (L.) Merrill] is a disease that causes yield loss in soybean growing regions across the USA and worldwide. While several quantitative trait loci (QTL) for SDS resistance have been mapped, studies to further evaluate these QTL are limited. The objective of our research was to map SDS resistance QTL and to test the effect of mapped resistance QTL on foliar symptoms when incorporated into elite soybean backgrounds...
April 16, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29655994/peripartum-anaesthetic-management-of-a-patient-with-brugada-syndrome-and-myoadenylate-deaminase-deficiency
#4
H Dawe, R Wendler, E Evans, S Hammond
Brugada syndrome is a rare electrophysiological cardiac disease which can result in serious arrhythmias and sudden cardiac death. Peripartum management is centred around avoiding arrhythmogenic drugs, including high doses of sodium channel blocking drugs such as bupivacaine. Myoadenylate deaminase deficiency, also known as adenosine monophosphate deaminase deficiency, is the commonest cause of myopathy in Caucasians. There is evidence that myoadenylate deaminase deficiency can predispose patients to developing malignant hyperthermia when exposed to specific anaesthetic agents...
March 2, 2018: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/29649615/fever-related-arrhythmic-events-in-the-multicenter-survey-on-arrhythmic-events-in-brugada-syndrome-sabrus
#5
Yoav Michowitz, Anat Milman, Georgia Sarquella-Brugada, Antoine Andorin, Jean Champagne, Pieter G Postema, Ruben Casado-Arroyo, Eran Leshem, Jimmy Jm Juang, Carla Giustetto, Jacob Tfelt-Hansen, Yanushi D Wijeyeratne, Christian Veltmann, Domenico Corrado, Sung-Hwan Kim, Pietro Delise, Shingo Maeda, Jean-Baptiste Gourraud, Frederic Sacher, Philippe Mabo, Yoshihide Takahashi, Tsukasa Kamakura, Takeshi Aiba, Giulio Conte, Aviram Hochstadt, Yuka Mizusawa, Michael Rahkovich, Elena Arbelo, Zhengrong Huang, Isabelle Denjoy, Carlo Napolitano, Ramon Brugada, Leonardo Calo, Silvia G Priori, Masahiko Takagi, Elijah R Behr, Fiorenzo Gaita, Gan-Xin Yan, Josep Brugada, Antoine Leenhardt, Arthur A M Wilde, Pedro Brugada, Kengo F Kusano, Kenzo Hirao, Gi-Byoung Nam, Vincent Probst, Bernard Belhassen
BACKGROUND: The literature on fever related arrhythmic events (AE) in Brugada syndrome (BrS) is currently limited to few case reports and small series. OBJECTIVE: The current study aims to describe the characteristics of fever-related AE in a large cohort of BrS patients. METHODS: SABRUS is a multicenter study on 678 BrS patients with first AE documented at time of aborted cardiac arrest (ACA) (n=426) or after prophylactic ICD implantation (n=252)...
April 9, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29645275/central-and-peripheral-chemoreceptors-in-sudden-infant-death-syndrome
#6
Andrea Porzionato, Veronica Macchi, Raffaele De Caro
The pathogenesis of Sudden Infant Death Syndrome (SIDS) has been ascribed to an underlying biological vulnerability to stressors during a critical period of development. This paper reviews the main data in the literature supporting the role of central (e.g. retrotrapezoid nucleus, serotoninergic raphe nuclei, locus coeruleus, orexinergic neurons, ventral medullary surface, solitary tract nucleus) and peripheral (e.g. carotid body) chemoreceptors in the pathogenesis of SIDS. Clinical and experimental studies indicate that central and peripheral chemoreceptors undergo critical development during the initial postnatal period, consistent with the age range of SIDS (< 1 year)...
April 12, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29644236/hypertrophic-cardiomyopathy-with-a-large-apical-ventricular-aneurysm-and-mural-thrombus
#7
Munis Raza, Nagib Chalfoun, Abdallah Wissam, Hamza Hashmi, Richard McNamara
Hypertrophic cardiomyopathy (HCM) is characterized by increased left ventricular wall thickness in the absence of any other identifiable cause of thickness. It predisposes the patient to increased risk of sudden cardiac death (SCD) due to fatal arrhythmias. Approximately 2% of the HCM patients have left ventricular apical aneurysm. CMR imaging is better in identifying this apical aneurysm as compared to echocardiogram. This apical aneurysm, which can be akinetic or dyskinetic, increases the risk of disease-related adverse events as compared to general HCM...
March 14, 2018: Global Cardiology Science & Practice
https://www.readbyqxmd.com/read/29624510/genetic-risk-stratification-in-cardiac-arrhythmias
#8
Carlo Napolitano, Andrea Mazzanti, Silvia G Priori
PURPOSE OF REVIEW: The current article provides a concise summary of the possibilities and limitations of genotype-based risk stratification of cardiac arrhythmias. We will outline the most important findings of the recent years in the light of their chronological and conceptual development. RECENT FINDINGS: Genotype-phenotype association studies in families with single-gene disorders as well as in the general population led to the discovery of several DNA variants significantly associated with the risk of sudden death or life-threatening arrhythmias...
April 4, 2018: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/29622979/anomalous-origin-of-left-main-coronary-artery-from-the-right-sinus-of-valsalva-presenting-as-non-st-elevation-acute-coronary-syndrome-a-case-report
#9
Anish Hirachan, Arun Maskey, Gopi Prasad Hirachan, Madhu Roka
Congenital anomalies of the coronary arteries are a cause of sudden cardiac death. Of the known anatomic variants, anomalous origination of a coronary artery from an opposite sinus of Valsalva (ACAOS) remains a major clinical issue and a challenging condition to treat. Congenital coronary anomalies are likely to be under-recognized, as completing an anatomic assessment in a very large portion of the population would seem unfeasible. However, we present a case report with image of a 49 year old male presented with acute non-ST elevation ACS for which he underwent diagnostic angiography of the coronary system which revealed a common origin of both right and left main coronary artery from right sinus of Valsalva with significant obstructive lesion in the mid segment of right coronary artery...
September 2017: The Egyptian heart journal: (EHJ): official bulletin of the Egyptian Society of Cardiology
https://www.readbyqxmd.com/read/29622001/clinical-and-molecular-genetic-risk-determinants-in-adult-long-qt-syndrome-type-1-and-2-patients-koponen-et-al-follow-up-of-adult-lqts-patients
#10
Mikael Koponen, Aki S Havulinna, Annukka Marjamaa, Annukka M Tuiskula, Veikko Salomaa, Päivi J Laitinen-Forsblom, Kirsi Piippo, Lauri Toivonen, Kimmo Kontula, Matti Viitasalo, Heikki Swan
BACKGROUND: Long QT syndrome (LQTS) is an inherited cardiac disorder predisposing to sudden cardiac death (SCD). We studied factors affecting the clinical course of genetically confirmed patients, in particular those not receiving β-blocker treatment. In addition, an attempt was made to associate risk of events to specific types of KCNQ1 and KCNH2 mutations. METHODS: A follow-up study covering a mean of 18.6 ± 6.1 years was conducted in 867 genetically confirmed LQT1 and LQT2 patients and 654 non-carrier relatives aged 18-40 years...
April 5, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29619572/-recognizing-rare-cardiac-diseases-by-electrocardiogram
#11
REVIEW
W Grimm, A Grimm, K Grimm, E Efimova
A number of rare cardiac diseases can be recognized by electrocardiogram (ECG). This article illustrates the clinical importance of ECG as a key diagnostic tool to detect Wolff-Parkinson-White syndrome and channelopathies, which are frequently diagnosed late after one or more affected family members have become victims of sudden cardiac death. These channelopathies include long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. In addition, typical ECG findings are frequently present in patients with idiopathic ventricular tachycardia, arrhythmogenic right ventricular dysplasia, digitalis intoxication, hyperkalemia, acute cor pulmonale due to pulmonary embolism, as well as severe left ventricular hypertrophy as in hypertrophic cardiomyopathy...
April 4, 2018: Der Internist
https://www.readbyqxmd.com/read/29617167/sudden-infant-death-syndrome-a-global-public-health-issue-and-nursing-s-response
#12
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/29608654/the-ventrolateral-medulla-and-medullary-raphe-in-sudden-unexpected-death-in-epilepsy
#13
Smriti Patodia, Alyma Somani, Megan O'Hare, Ranjana Venkateswaran, Joan Liu, Zuzanna Michalak, Matthew Ellis, Ingrid E Scheffer, Beate Diehl, Sanjay M Sisodiya, Maria Thom
Sudden unexpected death in epilepsy (SUDEP) is a leading cause of premature death in patients with epilepsy. One hypothesis proposes that sudden death is mediated by post-ictal central respiratory depression, which could relate to underlying pathology in key respiratory nuclei and/or their neuromodulators. Our aim was to investigate neuronal populations in the ventrolateral medulla (which includes the putative human pre-Bötzinger complex) and the medullary raphe. Forty brainstems were studied comprising four groups: 14 SUDEP, six epilepsy controls, seven Dravet syndrome cases and 13 non-epilepsy controls...
March 28, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29608225/prediction-of-ventricular-tachyarrhythmia-in-brugada-syndrome-by-right-ventricular-outflow-tract-conduction-delay-signs
#14
Ahmed A Y Ragab, Charlotte A Houck, Lisette J M E van der Does, Eva A H Lanters, Agnes J Q M Muskens, Natasja M S de Groot
BACKGROUND: Brugada syndrome (BrS) is an autosomal dominant disease responsible for sudden cardiac death in young individuals without structural anomalies. The most critical part in management of this channelopathy is identification of high risk patients, especially asymptomatic subjects. Prior studies have shown that conduction delay in the right ventricular outflow tract (RVOT) is the main mechanism for developing ventricular tachyarrhythmia (VTA) in BrS patients. The aim of this study was to investigate the significance of electrocardiographic RVOT conduction delay parameters as predictors for development of VTA in patients with BrS...
April 2, 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29606014/analysis-of-sudden-infant-death-syndrome-coverage-in-canadian-newspapers
#15
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/29605429/dysfunction-of-nav1-4-a-skeletal-muscle-voltage-gated-sodium-channel-in-sudden-infant-death-syndrome-a-case-control-study
#16
Roope Männikkö, Leonie Wong, David J Tester, Michael G Thor, Richa Sud, Dimitri M Kullmann, Mary G Sweeney, Costin Leu, Sanjay M Sisodiya, David R FitzPatrick, Margaret J Evans, Iona J M Jeffrey, Jacob Tfelt-Hansen, Marta C Cohen, Peter J Fleming, Amie Jaye, Michael A Simpson, Michael J Ackerman, Michael G Hanna, Elijah R Behr, Emma Matthews
BACKGROUND: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1.4, which is encoded by the gene SCN4A. Variants in NaV1.4 that directly alter skeletal muscle excitability can cause myotonia, periodic paralysis, congenital myopathy, and myasthenic syndrome...
March 28, 2018: Lancet
https://www.readbyqxmd.com/read/29605428/skeletal-muscle-channelopathy-a-new-risk-for-sudden-infant-death-syndrome
#17
Stephen C Cannon
No abstract text is available yet for this article.
March 28, 2018: Lancet
https://www.readbyqxmd.com/read/29601086/scn1a-variants-associated-with-sudden-infant-death-syndrome
#18
Catherine A Brownstein, Richard D Goldstein, Christopher H Thompson, Robin L Haynes, Emma Giles, Beth Sheidley, Matthew Bainbridge, Elisabeth A Haas, Othon J Mena, Jonathan Lucas, Bethann Schaber, Ingrid A Holm, Alfred L George, Hannah C Kinney, Annapurna H Poduri
We identified SCN1A variants in 2 infants who died of sudden infant death syndrome (SIDS) with hippocampal abnormalities from an exome sequencing study of 10 cases of SIDS but no history of seizures. One harbored SCN1A G682V, and the other had 2 SCN1A variants in cis: L1296M and E1308D, a variant previously associated with epilepsy. Functional evaluation in a heterologous expression system demonstrated partial loss of function for both G682V and the compound variant L1296M/E1308D. Our cases represent a novel association between SCN1A and SIDS, extending the SCN1A spectrum from epilepsy to SIDS...
April 2018: Epilepsia
https://www.readbyqxmd.com/read/29590732/genetic-aspects-of-hereditary-arrhythmogenic-syndromes-in-children-and-adults
#19
REVIEW
Vesna Miranović, Snežana Crnogorac
Recent research has revealed the genetic etiology of a number of heart diseases that cause sudden cardiac death. Lethal channelopathies are of great importance among the genetically determined heart diseases. Their basic characteristics are unpredictable and deadly nature, autosomal dominant inheritance with variable expressivity and incomplete penetrance in structurally normal heart, and absence of morphological and histological clues that a standard autopsy can identify. Minimum screening of the relatives of sudden cardiac death victims involves taking medical history, physical examination, electrocardiography, echocardiography, and exercise testing...
December 2017: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29582113/mapping-of-new-quantitative-trait-loci-for-sudden-death-syndrome-and-soybean-cyst-nematode-resistance-in-two-soybean-populations
#20
Sivakumar Swaminathan, Nilwala S Abeysekara, Joshua M Knight, Min Liu, Jia Dong, Matthew E Hudson, Madan K Bhattacharyya, Silvia R Cianzio
Novel QTL conferring resistance to both the SDS and SCN was detected in two RIL populations. Dual resistant RILs could be used in breeding programs for developing resistant soybean cultivars. Soybean cultivars, susceptible to the fungus Fusarium virguliforme, which causes sudden death syndrome (SDS), and to the soybean cyst nematode (SCN) (Heterodera glycines), suffer yield losses valued over a billion dollars annually. Both pathogens may occur in the same production fields. Planting of cultivars genetically resistant to both pathogens is considered one of the most effective means to control the two pathogens...
March 26, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
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