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Sudden unexplained death

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/27930701/natural-and-undetermined-sudden-death-value-of-post-mortem-genetic-investigation
#10
Olallo Sanchez, Oscar Campuzano, Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Irene Mademont, Jesus Mates, Alexandra Pérez-Serra, Monica Coll, Ferran Pico, Anna Iglesias, Coloma Tirón, Catarina Allegue, Esther Carro, María Ángeles Gallego, Carles Ferrer-Costa, Anna Hospital, Narcís Bardalet, Juan Carlos Borondo, Albert Vingut, Elena Arbelo, Josep Brugada, Josep Castellà, Jordi Medallo, Ramon Brugada
BACKGROUND: Sudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies may enable the unraveling of an etiology and the identification of relatives at risk. The aim of our study was to define the etiology of natural deaths, younger than 50 years of age, and to investigate whether genetic defects associated with cardiac diseases could provide a potential etiology for the unexplained cases. METHODS AND FINDINGS: Our cohort included a total of 789 consecutive cases (77...
2016: PloS One
https://www.readbyqxmd.com/read/27928228/multi-phase-post-mortem-ct-angiography-a-pathologic-correlation-study-on-cardiovascular-sudden-death
#11
Emanuela Turillazzi, Paola Frati, Natascha Pascale, Cristoforo Pomara, Giampaolo Grilli, Rocco Valerio Viola, Vittorio Fineschi
Multi-phase post-mortem CT-angiography (MPMCTA) has the great potential to increase the quality of the post-mortem investigation, especially in the area of sudden death; however, its role as routine complement to the pathology toolbox is still questioned as it needs to be further standardized. The aim of this study is to investigate the contribution of MPMCTA in cases of sudden unexplained death in adults and in particular in sudden cardiovascular death. Sixty-eight sudden unexpected deaths of adults were investigated at our institution between 2012 and 2013...
October 2016: Journal of Geriatric Cardiology: JGC
https://www.readbyqxmd.com/read/27924759/sudden-cardiac-death-in-south-india-incidence-risk-factors-and-pathology
#12
Uma N Srivatsa, K Swaminathan, K Sithy Athiya Munavarah, Ezra Amsterdam, K Shantaraman
BACKGROUND: Sudden cardiac death (SCD) is a major cause of mortality secondary to coronary artery disease (CAD) in the industrialized societies. Although South Asians have a high prevalence of CAD, the frequency and underlying pathology of SCD among this population are unknown. METHODS: Medical records of consecutive patients presenting with unexplained sudden death (USD) in a tertiary care center were reviewed. Patients with trauma, violent deaths, positive toxicology and non-cardiac pathology were excluded to determine sudden cardiac death (SCD)...
July 2016: Indian Pacing and Electrophysiology Journal
https://www.readbyqxmd.com/read/27917382/updates-on-the-methodological-approaches-for-carrying-out-an-in-depth-study-of-the-cardiac-conduction-system-and-the-autonomic-nervous-system-of-victims-of-sudden-unexplained-fetal-and-infant-death
#13
Graziella Alfonsi, Marina Crippa
This article contains a set of protocols for histopathological techniques that can be used for carrying out in-depth studies of cases of sudden infant death syndrome and sudden intrauterine unexplained fetal death syndrome. In order to enable researchers to advance hypotheses regarding the causes of the unexpected death of infants and fetuses, the authors propose three innovative and accurate methodologies for studying the cardiac conduction system, the peripheral cardiac nervous system, and the central autonomic nervous system...
2016: Frontiers in Medicine
https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#14
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27891698/vaccination-and-unexplained-sudden-death-risk-in-taiwanese-infants
#15
Wan-Ting Huang, Robert T Chen, Yu-Chen Hsu, John W Glasser, Philip H Rhodes
PURPOSE: In March 1992, eight infants who had died within 36 hours of receiving whole-cell pertussis vaccine (diphtheria, tetanus, and whole-cell pertussis [DTwP]) prompted the Taiwan health authorities to suspend its use. We conducted an investigation of vaccination and sudden unexplained infant death (SUID) and repeated it more recently after Taiwan switched to acellular pertussis vaccine (diphtheria, tetanus, and acellular pertussis [DTaP]) in 2010. METHODS: All SUIDs aged 31-364 days during 1990-1992 and 1996-2013 were selected from the death registration databases...
November 28, 2016: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/27879323/issues-and-challenges-in-diagnostic-sequencing-for-inherited-cardiac-conditions
#16
REVIEW
Roddy Walsh, Stuart A Cook
BACKGROUND: Inherited cardiac conditions are a relatively common group of Mendelian diseases associated with ill health and death, often in the young. Research into the genetic causes of these conditions has enabled confirmatory and predictive diagnostic sequencing to become an integral part of the clinical management of inherited cardiomyopathies, arrhythmias, aortopathies, and dyslipidemias. CONTENT: Currently, the principle benefit of clinical genetic testing is the cascade screening of family members of patients with a pathogenic variant, enabling targeted follow up of presymptomatic genotype-positive individuals and discharge of genotype-negative individuals to health...
January 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/27864903/long-term-monitoring-of-cardiorespiratory-patterns-in-drug-resistant-epilepsy
#17
Daniel M Goldenholz, Amanda Kuhn, Alison Austermuehle, Martin Bachler, Christopher Mayer, Siegfried Wassertheurer, Sara K Inati, William H Theodore
OBJECTIVE: Sudden unexplained death in epilepsy (SUDEP) during inpatient electroencephalography (EEG) monitoring has been a rare but potentially preventable event, with associated cardiopulmonary markers. To date, no systematic evaluation of alarm settings for a continuous pulse oximeter (SpO2 ) has been performed. In addition, evaluation of the interrelationship between the ictal and interictal states for cardiopulmonary measures has not been reported. METHODS: Patients with epilepsy were monitored using video-EEG, SpO2 , and electrocardiography (ECG)...
January 2017: Epilepsia
https://www.readbyqxmd.com/read/27792993/abnormal-autonomic-nervous-system-function-in-rural-thai-men-a-potential-contributor-to-their-high-risk-of-sudden-unexplained-nocturnal-death-syndrome
#18
Raoyrin Chanavirut, Terdthai Tong-Un, Dusit Jirakulsomchok, J Michael Wyss, Sanya Roysommuti
BACKGROUND: Rural compared to urban Thai populations have a higher incidence of sudden unexplained nocturnal death syndrome (SUNDS). This study tests the hypothesis that compared to young urban Thai men, the young rural northeast Thai men display autonomic system dysfunction that may contribute to their relatively high risk to develop SUNDS. METHODS: Forty-seven healthy second and third year students from Khon Kaen University (20-22years old) were divided into central, urban northeastern, and rural northeastern groups, based on the locality in which they had grown up and in which their parents had lived prior to their birth...
October 4, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27787326/the-economical-furnishing-and-equipment-of-children-s-hospitals-or-wards
#19
(no author information available yet)
: Editor's note: From its first issue in 1900 through to the present day, AJN has unparalleled archives detailing nurses' work and lives over more than a century. These articles not only chronicle nursing's growth as a profession within the context of the events of the day, but they also reveal prevailing societal attitudes about women, health care, and human rights. Today's nursing school curricula rarely include nursing's history, but it's a history worth knowing. To this end, From the AJN Archives highlights articles selected to fit today's topics and times...
November 2016: American Journal of Nursing
https://www.readbyqxmd.com/read/27787325/an-evidence-based-infant-safe-sleep-program-to-reduce-sudden-unexplained-infant-deaths
#20
Whitney Zachritz, Megan Fulmer, Nicole Chaney
: : Objective: The purpose of this project was to design, implement, and evaluate a safe sleep program for expectant mothers and the families of infants discharged from our hospital's neonatal intensive care unit (NICU). It was prompted by the sleep-related deaths of two infants in the community, both of whom had been discharged from our NICU. METHODS: A six-member interdisciplinary team comprising nurses, a physician, an occupational therapist, and a respiratory therapist developed a safe sleep program in an effort to identify and implement evidence-based safe sleep practices for infants in the NICU...
November 2016: American Journal of Nursing
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