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Sudden death syndrome

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https://www.readbyqxmd.com/read/28196901/novel-variant-in-the-ank2-membrane-binding-domain-is-associated-with-ankyrin-b-syndrome-and-structural-heart-disease-in-a-first-nations-population-with-a-high-rate-of-long-qt-syndrome
#1
Leigh Anne Swayne, Nathaniel P Murphy, Sirisha Asuri, Lena Chen, Xiaoxue Xu, Sarah McIntosh, Chao Wang, Peter J Lancione, Jason D Roberts, Charles Kerr, Shubhayan Sanatani, Elizabeth Sherwin, Crystal F Kline, Mingjie Zhang, Peter J Mohler, Laura T Arbour
BACKGROUND: Long QT syndrome confers susceptibility to ventricular arrhythmia, predisposing to syncope, seizures, and sudden death. While rare globally, long QT syndrome is ≈15× more common in First Nations of Northern British Columbia largely because of a known mutation in KCNQ1. However, 2 large multigenerational families were affected, but negative for the known mutation. METHODS AND RESULTS: Long QT syndrome panel testing was carried out in the index case of each family, and clinical information was collected...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28184974/-causes-of-death-in-amyotrophic-lateral-sclerosis-results-from-the-rhineland-palatinate-als-registry
#2
J Wolf, A Safer, J C Wöhrle, F Palm, W A Nix, M Maschke, A J Grau
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is associated with an increased mortality. Knowledge of possible causes of death could lead to an individualization of the palliative treatment concept and result in a differentiated palliative treatment pathway. Currently, only few systematic data are available on the heterogeneity of causes of death associated with ALS. OBJECTIVE: Analysis of the various causes of death in a prospective population-based German cohort of ALS patients...
February 9, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28182551/fetal-qt-interval-estimation-using-sequential-hypothesis-testing
#3
Suhong Yu, Barry VanVeen, William Lutter, Ronald Wakai
OBJECTIVE: Recent studies utilizing fetal magnetocardiography have demonstrated the efficacy of corrected QT interval (QTc) measurement for in utero diagnosis and prognosis of long QT syndrome, a leading cause of sudden death in early life. The objective of the study was to formulate and test a novel statistical estimation method to detect the end of the fetal T-wave and thereby improve the accuracy of fetal QT interval measurement. METHODS: To detect the end of the T-wave we apply a sequential composite hypothesis test to decide when the T-wave has returned to baseline...
February 2, 2017: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28181352/benign-mitochondrial-myopathy-with-exercise-intolerance-in-a-large-multigeneration-family-due-to-a-homoplasmic-m-3250t-c-mutation-in-mttl1
#4
N Darin, C Hedberg-Oldfors, A-K Kroksmark, A-R Moslemi, G Kollberg, A Oldfors
BACKGROUND AND PURPOSE: Most mitochondrial disorders with onset in early childhood are progressive and involve multiple organs. The m.3250T>C mutation in MTTL1 has previously been described in a few individuals with a possibly riboflavin-responsive myopathy and an association with sudden infant death syndrome was suspected. We describe a large family with this mutation and evaluate the effect of riboflavin treatment. METHODS: Medical data were collected with the help of a standardized data collection form...
February 9, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28176637/personalized-medicine-applied-to-forensic-sciences-new-advances-and-perspectives-for-a-tailored-forensic-approach
#5
Alessandro Santurro, Anna Maria Vullo, Marina Borro, Giovanna Gentile, Raffaele La Russa, Maurizio Simmaco, Paola Frati, Vittorio Fineschi
Personalized medicine (PM), included in P5 medicine (Personalized, Predictive, Preventive, Participative and Precision medicine) is an innovative approach to the patient, emerging from the need to tailor and to fit the profile of each individual. PM promises to dramatically impact also on forensic sciences and justice system in ways we are only beginning to understand. The application of omics (genomic, transcriptomics, epigenetics/imprintomics, proteomic and metabolomics) is ever more fundamental in the so called "molecular autopsy"...
February 7, 2017: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/28173744/glutathione-system-participation-in-thoracic-aneurysms-from-patients-with-marfan-syndrome
#6
Alejandra María Zúñiga-Muñoz, Israel Pérez-Torres, Verónica Guarner-Lans, Elías Núñez-Garrido, Rodrigo Velázquez Espejel, Claudia Huesca-Gómez, Ricardo Gamboa-Ávila, María Elena Soto
Aortic dilatation in Marfan syndrome (MFS) is progressive. It is associated with oxidative stress and endothelial dysfunction that contribute to the early acute dissection of the vessel and can result in rupture of the aorta and sudden death. We evaluated the participation of the glutathione (GSH) system, which could be involved in the mechanisms that promote the formation and progression of the aortic aneurysms in MFS patients. Patients and methods: Aortic aneurysm tissue was obtained during chest surgery from eight control subjects and 14 MFS patients...
February 8, 2017: VASA. Zeitschrift Für Gefässkrankheiten
https://www.readbyqxmd.com/read/28166332/reducing-the-risk-of-sudden-infant-death-syndrome
#7
Megan A Moreno
No abstract text is available yet for this article.
February 1, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28160232/paediatricians-practice-about-sudden-infant-death-syndrome-in-catalonia-spain
#8
Federico de Luca, Esperanza L Gómez-Durán, Josep Arimany-Manso
Background SIDS is the major cause of death among healthy born infants in developed countries. Its causes are still unclear, but its risk can be reduced by implementing some simple active interventions. In Spain, limited attention was given to SIDS by the national healthcare system, and actual data on healthcare professionals' practice on this topic was not available. This study explored for the first time paediatricians' knowledge and practice about SIDS. Methods A cross-sectional survey was carried out between November 2012 and April 2013 in Catalonia, and reached 1202 paediatricians...
February 3, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28150739/alterations-in-the-carnitine-cycle-in-a-mouse-model-of-rett-syndrome
#9
Sabrina Mucerino, Anna Di Salle, Nicola Alessio, Sabrina Margarucci, Raffaella Nicolai, Mariarosa A B Melone, Umberto Galderisi, Gianfranco Peluso
Rett syndrome (RTT) is a neurodevelopmental disease that leads to intellectual deficit, motor disability, epilepsy and increased risk of sudden death. Although in up to 95% of cases this disease is caused by de novo loss-of-function mutations in the X-linked methyl-CpG binding protein 2 gene, it is a multisystem disease associated also with mitochondrial metabolic imbalance. In addition, the presence of long QT intervals (LQT) on the patients' electrocardiograms has been associated with the development of ventricular tachyarrhythmias and sudden death...
February 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28150278/the-quality-of-a-newly-developed-infant-chest-compression-method-applied-by-paramedics-a-randomized-crossover-manikin-trial
#10
Jacek Smereka, Mariusz Kasinski, Adam Smereka, Jerzy Robert Ładny, Łukasz Szarpak
BACKGROUND: The etiology of sudden cardiac arrest in infants is different from that in adults, with respiratory failure, sudden infant death syndrome, and drowning being the primary causes in the former. According to the European Resuscitation Council (ERC) and American Heart Association (AHA) recommendations, the quality of chest compressions (CC) is a key element affecting the effectiveness of cardiopulmonary resuscitation (CPR). The current ERC and AHA guidelines recommend the 'two-finger technique' (TFT) or 'two-thumb encircling hands technique' (TTHT) for external CCs during infant CPR...
February 2, 2017: Kardiologia Polska
https://www.readbyqxmd.com/read/28146213/compound-heterozygous-scn5a-mutations-in-a-toddler-are-they-associated-with-a-more-severe-phenotype
#11
Luciana Sacilotto, Hindalis Ballesteros Epifanio, Francisco Carlos da Costa Darrieux, Fanny Wulkan, Theo Gremen Mimary Oliveira, Denise Tessariol Hachul, Alexandre da Costa Pereira, Mauricio Ibrahim Scanavacca
Compound heterozygosity has been described in inherited arrhythmias, and usually associated with a more severe phenotype. Reports of this occurrence in Brugada syndrome patients are still rare. We report a study of genotype-phenotype correlation after the identification of new variants by genetic testing. We describe the case of an affected child with a combination of two different likely pathogenic SCN5A variants, presenting sinus node dysfunction, flutter and atrial fibrillation, prolonged HV interval, spontaneous type 1 Brugada pattern in the prepubescent age and familiar history of sudden death...
January 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/28146053/cardiac-channelopathies-and-sudden-death-recent-clinical-and-genetic-advances
#12
REVIEW
Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Josep Brugada, Ramon Brugada, Oscar Campuzano
Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia)...
January 29, 2017: Biology
https://www.readbyqxmd.com/read/28139454/brugada-syndrome-diagnosis-risk-stratification-and-management
#13
REVIEW
Jean-Baptiste Gourraud, Julien Barc, Aurélie Thollet, Hervé Le Marec, Vincent Probst
Brugada syndrome is a rare inherited arrhythmia syndrome leading to an increased risk of sudden cardiac death, despite a structurally normal heart. Diagnosis is based on a specific electrocardiogram pattern, observed either spontaneously or during a sodium channel blocker test. Among affected patients, risk stratification remains a challenge, despite recent insights from large population cohorts. As implantable cardiac defibrillators - the main therapy in Brugada syndrome - are associated with a high rate of complications in this population, the main challenge is risk stratification of patients with Brugada syndrome...
January 27, 2017: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/28139199/wide-qrs-in-a-2-month-infant-associated-with-recurrent-ventricular-tachycardia-a-case-of-brugada-like-syndrome
#14
W Jomaa, W Selmi, S Hamdi, M A Azaiez, A El Hraiech, K Ben Hamda, F Maatouk
We report the case of a 2-month old infant who experienced recurrent sustained ventricular tachycardia (VT) in a structurally normal heart. Resting electrocardiogram (ECG) showed wide QRS with a complete right bundle branch bloc (RBBB) morphology. There was no family history of syncope or sudden death, but the ECGs of the father and the brother showed incomplete RBBB with negative T waves on V1 lead. This case seems to fit well with the newly defined entity of Brugada-like syndrome with a highly suspected genetic underlying disposition...
January 27, 2017: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/28138202/treating-an-adolescent-with-long-qt-syndrome-for-bipolar-disorder-a-case-presentation
#15
Özlem Önen, Ayşe Kutlu, Handan Özek Erkuran
OBJECTIVES: Long QT syndrome (LQTS) is described as the development of sudden syncope attacks or death as a result of ventricular tachycardia (VT) episodes that might be observed as elongated QT interval in electrocardiography (ECG). Implantable Cardioverter Defibrillator (ICD) is recommended as first-line treatment for the condition in guidelines. We aimed to present an adolescent recently diagnosed with Bipolar Disorder (BD) who had LQTS that was treated with ICD, discussing her follow up and treatment along with relevant literature...
January 26, 2017: Psychopharmacology Bulletin
https://www.readbyqxmd.com/read/28135878/physician-practices-regarding-sids-in-kansas
#16
Fannette Thornhill-Scott, Frank Dong, Michelle Redmond, Elizabeth Ablah
Sudden infant death syndrome (SIDS) is the leading cause of death among infants aged 1 to 12 months. The purpose of this study was to assess prenatal and postnatal physicians' knowledge about SIDS in a county with high rates of SIDS deaths. A cross-sectional survey was conducted of pediatricians, family practitioners, and obstetricians in Sedgwick County, Kansas. Most physicians reported correctly that there were effective measures to reduce SIDS. Most respondents agreed it was important to discuss SIDS with parents...
January 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28132080/fvsnf1-the-sucrose-non-fermenting-protein-kinase-gene-of-fusarium-virguliforme-is-required-for-cell-wall-degrading-enzymes-expression-and-sudden-death-syndrome-development-in-soybean
#17
Kazi T Islam, Jason P Bond, Ahmad M Fakhoury
Fusarium virguliforme is a soil-borne pathogenic fungus that causes sudden death syndrome (SDS) in soybean. Its pathogenicity is believed to require the activity of cell-wall-degrading enzymes (CWDEs). The sucrose non-fermenting protein kinase 1 gene (SNF1) is a key component of the glucose de-repression pathway in yeast, and a regulator of gene expression for CWDEs in some plant pathogenic fungi. To elucidate the functional role of the SNF1 homolog in F. virguliforme, FvSNF1 was disrupted using a split-marker strategy...
January 28, 2017: Current Genetics
https://www.readbyqxmd.com/read/28127136/a-variant-of-brugada-syndrome
#18
Maryna Popp Switzer, Mohamed Teleb, Enoch Agunanne, Aamer Abbas
Brugada syndrome is an inherited disorder that can present with syncope, cardiac arrest, or sudden cardiac death. Multiple genetic mutations have been described that cause this disease. We present a 56-year-old man who sustained an out-of-hospital cardiac arrest, was resuscitated, and was found to have typical features of the Brugada criteria on the electrocardiogram. Genetic testing was positive for a heterozygous mutation in the sodium voltage-gated channel alpha subunit 5 (SCN5A) gene with a p. Leu227Pro (L227P) variant located on exon 6...
January 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28119333/genetic-insurance-discrimination-in-sudden-arrhythmia-death-syndromes-empirical-evidence-from-a-cross-sectional-survey-in-north-america
#19
Saira Mohammed, Zaneta Lim, Paige H Dean, James E Potts, Jessica N C Tang, Susan P Etheridge, Alice Lara, Pam Husband, Elizabeth D Sherwin, Michael J Ackerman, Shubhayan Sanatani
BACKGROUND: There is virtually no information assessing the insurability of families affected with Sudden Arrhythmia Death Syndromes (SADS) for the determination of the nonclinical implications of genetic screening. It is important to identify the barriers and challenges faced by families as a result of genetic screening for SADS to enable equitable access to insurance coverage. METHODS AND RESULTS: To explore the insurance coverage experiences of SADS-affected families, we administered a cross-sectional online survey across North America from April 28, 2012 to November 13, 2013...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28115439/brief-resolved-unexplained-event-new-diagnosis-in-infants
#20
Karen Arane, Ilene Claudius, Ran D Goldman
QUESTION: For many years, the term apparent life-threatening event (ALTE) was associated with sudden infant death syndrome, and parents who described an acute event in their infants were sent to the hospital for admission. I understand that for infants new terminology is recommended. What is the current approach to a near-death experience of an infant? ANSWER: A recent clinical practice guideline revised the name and definition of an ALTE to a brief resolved unexplained event (BRUE)...
January 2017: Canadian Family Physician Médecin de Famille Canadien
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