keyword
MENU ▼
Read by QxMD icon Read
search

Sudden unexplained death

keyword
https://www.readbyqxmd.com/read/28224446/current-care-and-investigational-therapies-in-achondroplasia
#1
REVIEW
Sheila Unger, Luisa Bonafé, Elvire Gouze
PURPOSE OF REVIEW: The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe. RECENT FINDINGS: Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery...
February 21, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28218286/vinculin-variant-m94i-identified-in-sudden-unexplained-nocturnal-death-syndrome-decreases-cardiac-sodium-current
#2
Jianding Cheng, John W Kyle, Brandi Wiedmeyer, Di Lang, Ravi Vaidyanathan, Jonathan C Makielski
Sudden unexplained nocturnal death syndrome (SUNDS) remains an autopsy negative disorder with unclear etiology. Vinculin (VCL) was linked to sudden arrhythmia death in VCL knockout mice prior to the appearance of cardiomyopathy. We hypothesized VCL mutations underlie risk for SUNDS. A rare heterozygous variant VCL-M94I was found in a SUNDS victim who suffered sudden nocturnal tachypnea and lacked pathogenic variants in known arrhythmia-causing genes. VCL was identified to interact with SCN5A in vitro/vivo. The VCL-M94I was co-expressed with the cardiac sodium channel in HEK293 cells and also overexpressed in induced pluripotent stem cells derived cardiomyocytes (iPSCs-CM)...
February 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28210509/recurrence-of-postoperative-stress-induced-cardiomyopathy-resulting-from-status-epilepticus
#3
Grant A Miller, Yousef M Ahmed, Nicki S Tarant
Introduction. Classically, stress-induced cardiomyopathy (SIC), also known as takotsubo cardiomyopathy, displays the pathognomonic feature of reversible left ventricular apical ballooning without coronary artery stenosis following stressful event(s). Temporary reduction in ejection fraction (EF) resolves spontaneously. Variants of SIC exhibiting mid-ventricular regional wall motion abnormalities have been identified. Recent case series present SIC as a finding in association with sudden unexplained death in epilepsy (SUDEP)...
2017: Case Reports in Critical Care
https://www.readbyqxmd.com/read/28203222/unexpected-death-of-a-child-with-complex-febrile-seizures-pathophysiology-similar-to-sudden-unexpected-death-in-epilepsy
#4
Brian J Dlouhy, Michael A Ciliberto, Christina L Cifra, Patricia A Kirby, Devin L Shrock, Marcus Nashelsky, George B Richerson
Febrile seizures are usually considered relatively benign. Although some cases of sudden unexplained death in childhood have a history of febrile seizures, no documented case of febrile seizure-induced death has been reported. Here, we describe a child with complex febrile seizures who died suddenly and unexpectedly after a suspected seizure while in bed at night during the beginning phases of sleep. She was resuscitated and pronounced brain dead 2 days later at our regional medical center. Autopsy revealed multiorgan effects of hypoperfusion and did not reveal an underlying (precipitating) disease, injury, or toxicological cause of death...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28202948/identification-of-pathogenic-variants-in-genes-related-to-channelopathy-and-cardiomyopathy-in-korean-sudden-cardiac-arrest-survivors
#5
Ju Sun Song, Jong-Sun Kang, Young-Eun Kim, Seung-Jung Park, Kyoung-Min Park, June Huh, June Soo Kim, Hana Cho, Chang-Seok Ki, Young Keun On
Pathogenic variants in genes related to channelopathy and cardiomyopathy are the most common cause of sudden unexplained cardiac death. However, few reports have investigated the frequency and/or spectrum of pathogenic variants in these genes in Korean sudden cardiac arrest survivors. This study aimed to investigate the causative genetic variants of cardiac-associated genes in Korean sudden cardiac arrest survivors. We performed exome sequencing followed by filtering and validation of variants in 100 genes related to channelopathy and cardiomyopathy in 19 Korean patients who survived sudden cardiac arrest...
February 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28177452/sudden-unexplained-death-in-the-young-epidemiology-aetiology-and-value-of-the-clinically-guided-genetic-screening
#6
Aris Anastasakis, Efstathios Papatheodorou, Konstantinos Ritsatos, Nikos Protonotarios, Vasiliki Rentoumi, Konstantinos Gatzoulis, Loizos Antoniades, Emmanuel Agapitos, Philippos Koutsaftis, Chara Spiliopoulou, Dimitrios Tousoulis
No abstract text is available yet for this article.
February 8, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28149088/autonomic-dysfunction-a-comparative-study-of-patients-with-alzheimer-s-and-frontotemporal-dementia-a-pilot-study
#7
Thomas Gregor Issac, Sadanandavalli Retnaswami Chandra, Neelesh Gupta, Malligurki Raghurama Rukmani, S Deepika, T N Sathyaprabha
INTRODUCTION: In frontotemporal dementia (FTD) and Alzheimer's disease (AD), central autonomic structures get affected early. An insight into autonomic functions in these patients is likely to be of diagnostic importance and thus help in prognosticating and also probably explain unexplained sudden death in some of these patients. OBJECTIVES: The objective of this study is to identify autonomic dysfunction prevailing in patients. Then, if there is dysfunction, is the pattern same or different in these two conditions...
January 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28146053/cardiac-channelopathies-and-sudden-death-recent-clinical-and-genetic-advances
#8
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/28133719/the-toxicology-of-methadone-related-death-in-infants-under-1-year-three-case-series-and-review-of-the-literature
#9
Anthea B Mahesan Paul, Lary Simms, Arnold M Mahesan
Methadone-related fatalities occur rarely in infants under 1 year, with five confirmed cases in the literature. The interpretation of pediatric postmortem toxicology relies on adult data; however, infants have crucial physiological differences that may impact interpretation of results. Retrospective case review included scene investigation, interviews, autopsy, and NIH/CDC Sudden Unexplained Infant Death Investigation Reporting Form. Methadone levels were confirmed by liquid chromatography/tandem mass spectrometry (LC-MS/MS)...
January 30, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28115439/brief-resolved-unexplained-event-new-diagnosis-in-infants
#10
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
https://www.readbyqxmd.com/read/28092428/reproducibility-of-clinical-events-adjudications-in-a-trial-of-venous-thromboembolism-prevention
#11
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/28074886/post-mortem-whole-exome-analysis-in-a-large-sudden-infant-death-syndrome-cohort-with-a-focus-on-cardiovascular-and-metabolic-genetic-diseases
#12
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
https://www.readbyqxmd.com/read/28061807/gender-differences-in-sudden-cardiac-death-in-the-young-a-nationwide-study
#13
Bo Gregers Winkel, Bjarke Risgaard, Thea Bjune, Reza Jabbari, Thomas Hadberg Lynge, Charlotte Glinge, Henning Bundgaard, Stig Haunsø, Jacob Tfelt-Hansen
BACKGROUND: Hitherto, sudden cardiac death (SCD) in the young has been described with no distinction between genders. SCD occurs more often in men (SCDm) than women (SCDw), but this disparity is not understood and has not been investigated systematically in a nationwide setting. Our objective was to report gender differences in SCD in the young in a nationwide (Denmark) setting. METHODS: All deaths in persons aged 1-35 years nationwide in Denmark between 2000 and 2009 were included...
January 7, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28042286/importance-of-fetal-arrhythmias-to-the-neonatologist-and-pediatrician
#14
Annette Wacker-Gussmann, Ronald T Wakai, Janette F Strasburger
Sudden, unexplained death during the perinatal period remains a major, longstanding challenge. Recent advances in diagnostic techniques and genetic testing has provided evidence that a significant fraction of these deaths may result from lethal cardiac arrhythmias. In this paper, we review current methods of diagnosing arrhythmia in the fetus and strategies for management of life-threatening arrhythmia throughout the perinatal period, including transitional care at the time of delivery.
October 2016: NeoReviews
https://www.readbyqxmd.com/read/28032242/molecular-pathological-study-on-lrrc10-in-sudden-unexplained-nocturnal-death-syndrome-in-the-chinese-han-population
#15
Lei Huang, Shuangbo Tang, Yili Chen, Liyong Zhang, Kun Yin, Yeda Wu, Jinxiang Zheng, Qiuping Wu, Jonathan C Makielski, Jianding Cheng
Sudden unexplained nocturnal death syndrome (SUNDS) is a perplexing disorder to both forensic pathologists and clinic physicians. Clinical features of SUNDS survivors suggested that SUNDS is similar to Brugada syndrome (BrS). Leucine-rich repeat containing 10 (LRRC10) gene was a newly identified gene linked to dilated cardiomyopathy, a disease associated with sudden cardiac death. To investigate the prevalence and spectrum of genetic variants of LRRC10 gene in SUNDS and BrS, the coding regions of LRRC10 were genetically screened in 113 sporadic SUNDS victims (from January 2005 to December 2015, 30...
December 28, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28002527/rare-thymic-malignancy-of-b-cell-origin-t-cell%C3%A3-histiocyte-rich-large-b-cell-lymphoma
#16
Ileana Octavia Petrescu, Iancu Emil Pleşea, Maria Camelia Foarfă, Simona Bondari, Cristina Elena Singer, Elena Mădălina Dumitrescu, Răzvan Cosmin Pană, Georgeta Ligia Stănescu, Mircea Ovidiu Ciobanu
AIM: T-cell÷histiocyte-rich B-cell lymphoma is a rare type of diffuse large B-cell lymphoma reported as involving primarily the thymus only by one paper in the English literature. CASE PRESENTATION: A four and a half years old boy was admitted, after a sudden onset in the middle of the night, with superior vena cava syndrome, resuscitated cardiac and respiratory arrest and severe coma with Glasgow Coma Scale rate of 3. In spite of intensive treatment, the patient repeated twice the cardiac arrest and died sixteen hours after admittance...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27996317/cardiac-arrest-with-clozapine-and-olanzapine-revealing-long-qt-syndrome
#17
Edward Woloszyn, Nishant Whig, Eileen Trigoboff, Jeffery J Grace
The authors describe a rare case of "concealed" congenital Long QT Syndrome (LQTS) Type 3 in a patient with treatment resistant schizophrenia and no known personal or family history of cardiac disease. The patient in this Case Report had a hidden genetic condition revealed only following the essential administration of antipsychotics. As a result, this patient experienced an aborted cardiac arrest and a total of five episodes of ventricular tachycardia (VT) requiring cardioversion. Successful control of the VT occurred with an Automatic Internal Defibrillator (AID), judicious use of antipsychotic medications, and anti-arrhythmic medications...
December 20, 2016: Clinical Schizophrenia & related Psychoses
https://www.readbyqxmd.com/read/27994573/sudden-infant-death-syndrome-role-of-trigeminocardiac-reflex-a-review
#18
REVIEW
Gyaninder Pal Singh, Tumul Chowdhury, Barkha Bindu, Bernhard Schaller
Sudden infant death syndrome (SIDS) is an unexplained death in infants, which usually occurs during sleep. The cause of SIDS remains unknown and multifactorial. In this regard, the diving reflex (DR), a peripheral subtype of trigeminocardiac reflex (TCR), is also hypothesized as one of the possible mechanisms for this condition. The TCR is a well-established neurogenic reflex that manifests as bradycardia, hypotension, apnea, and gastric hypermotility. The TCR shares many similarities with the DR, which is a significant physiological adaptation to withstand hypoxia during apnea in many animal species including humans in clinical manifestation and mechanism of action...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27992820/gja1-gene-variations-in-sudden-unexplained-nocturnal-death-syndrome-in-the-chinese-han-population
#19
Qiuping Wu, Yeda Wu, Liyong Zhang, Jinxiang Zheng, Shuangbo Tang, Jianding Cheng
Sudden unexplained nocturnal death syndrome (SUNDS) is a conundrum to both forensic pathologists and physicians, more than 80% of which the molecular pathogenesis remains unclear. Reported studies on both clinical and genetic phenotypes suggest SUNDS is related to congenital and acquired arrhythmias. Recent researches have linked the mutations of gene gap junction alpha 1 (GJA1) with arrhythmogenic cardiac disorders. In the present study, we investigate the potential correlation between GJA1 gene variations and the occurrence of SUNDS...
December 9, 2016: Forensic Science International
https://www.readbyqxmd.com/read/27987400/an-insertion-deletion-polymorphism-within-3-utr-of-ryr2-modulates-sudden-unexplained-death-risk-in-chinese-populations
#20
Shouyu Wang, Zhixiang Zhang, Ya Yang, Chaoqun Wang, Ruiyang Tao, Shuxiang Hu, Zhixia Yin, Qing Zhang, Lijuan Li, Yan He, Shaohua Zhu, Chengtao Li, Suhua Zhang, Jianhua Zhang, Lihui Sheng, Fangyu Wu, Bin Luo, Yuzhen Gao
Sudden unexplained death (SUD) constitutes a part of the overall sudden death that can not be underestimated. Over the last years, genetic testing on SUD has revealed that inherited channelopathies might play important roles in the pathophysiology of this disease. Ryanodine receptor type-2 (RYR2) is a kind of ion channel extensively distributed in the sarcoplasmic reticulum (SR) of myocardium. Studies on RYR2 have suggested that either dysfunction or abnormal expression of it could lead to arrhythmia, which may cause cardiac arrest...
December 9, 2016: Forensic Science International
keyword
keyword
44259
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"