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https://www.readbyqxmd.com/read/28341006/an-unusual-case-of-sudden-unexpected-death-due-to-massive-hemopericardium-from-primary-mediastinal-seminoma
#1
Supot Puanglumyai, Suree Lekawanvijit
It is well-known that cardiovascular disease is the most common cause of sudden unexpected death, especially in the young. However complete postmortem investigation performed by qualified forensic pathologists is crucial in establishing the exact cause and manner of death. Sudden death caused by a cardiac tamponade occurring secondarily to a primary mediastinal tumor is extremely unusual. An autopsy on a 25-year-old man who died unexpectedly discovered a massive hemopericardium in association with an anterosuperior mediastinal mass...
January 2017: Forensic Science International
https://www.readbyqxmd.com/read/28334922/scn2a-deletion-improves-survival-and-brain-heart-dynamics-in-the-kcna1-null-mouse-model-of-sudden-unexpected-death-in-epilepsy-sudep
#2
Vikas Mishra, Bharat K Karumuri, Nicole M Gautier, Rui Liu, Timothy N Hutson, Stephanie L Vanhoof-Villalba, Ioannis Vlachos, Leonidas Iasemidis, Edward Glasscock
People with epilepsy have greatly increased probability of premature mortality due to sudden unexpected death in epilepsy (SUDEP). Identifying which patients are most at risk of SUDEP is hindered by a complex genetic etiology, incomplete understanding of the underlying pathophysiology, and lack of prognostic biomarkers. Here we evaluated heterozygous Scn2a gene deletion (Scn2a+/-) as a protective genetic modifier in the Kcna1 knockout mouse (Kcna1-/-) model of SUDEP, while searching for biomarkers of SUDEP risk embedded in electroencephalography (EEG) and electrocardiography (ECG) recordings...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334597/intramyocardial-bronchogenic-cyst-histological-appearance-and-a-review-of-the-literature
#3
Naoki Nishida, Yukiko Hata, Kazuhiro Nomoto
We report histological appearance of a bronchogenic cyst that was incidentally found in a 78-year-old man who died from drowning related to a traumatic accident. The cyst was found in the posterior edge of the interventricular septum and was monolocular with a 5-mm diameter. The cystic wall was not associated with cartilage or the smooth muscle layer, and was lined by ciliated respiratory epithelium. Immunohistochemistry showed that many of these epithelial cells were positive for cytokeratin 7 and thyroid transcription factor-1...
March 12, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28333919/exome-sequencing-based-molecular-autopsy-of-formalin-fixed-paraffin-embedded-tissue-after-sudden-death
#4
Richard D Bagnall, Jodie Ingles, Laura Yeates, Samuel F Berkovic, Christopher Semsarian
PURPOSE: Sudden death in the young is a devastating complication of inherited heart disorders. Finding the precise cause of death is important, but it is often unresolved after postmortem investigation. The addition of postmortem genetic testing, i.e., the molecular autopsy, can identify additional causes of death. We evaluated DNA extracted from formalin-fixed paraffin-embedded postmortem tissue for exome sequencing-based molecular autopsy after sudden death in the young. METHODS: We collected clinical and postmortem information from patients with sudden death...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28330972/fatal-cerebral-edema-with-status-epilepticus-in-children-with-dravet-syndrome-report-of-5-cases
#5
Kenneth A Myers, Jacinta M McMahon, Simone A Mandelstam, Mark T Mackay, Renate M Kalnins, Richard J Leventer, Ingrid E Scheffer
Dravet syndrome (DS) is a well-recognized developmental and epileptic encephalopathy associated with SCN1A mutations and 15% mortality by 20 years. Although over half of cases succumb to sudden unexpected death in epilepsy, the cause of death in the remainder is poorly defined. We describe the clinical, radiologic, and pathologic characteristics of a cohort of children with DS and SCN1A mutations who developed fatal cerebral edema causing mass effect after fever-associated status epilepticus. Cases were identified from a review of children with DS enrolled in the Epilepsy Genetics Research Program at The University of Melbourne, Austin Health, who died after fever-associated status epilepticus...
March 22, 2017: Pediatrics
https://www.readbyqxmd.com/read/28323007/intrathecal-application-of-the-microglial-inhibitor-minocycline-attenuates-sympathoexcitatory-and-proarrhythmogenic-changes-in-rats-with-chronic-temporal-lobe-epilepsy
#6
Amol M Bhandare, Komal Kapoor, Kim L Powell, Emma Braine, Pablo Casillas-Espinosa, Terence J O'Brien, Melissa M J Farnham, Paul M Pilowsky
The incidence of sudden unexpected death in epilepsy (SUDEP) is highest in people with chronic and drug-resistant epilepsy. Chronic spontaneous recurrent seizures cause cardiorespiratory autonomic dysfunctions. Pituitary adenylate cyclase-activating polypeptide (PACAP) is neuroprotective, whereas microglia produce both pro- and anti-inflammatory effects in the CNS. During acute seizures in rats, PACAP and microglia produce sympathoprotective effect at the intermediolateral cell column (IML), whereas their action on the presympathetic rostral ventrolateral medulla (RVLM) neurons mediates proarrhythmogenic changes...
March 18, 2017: Neuroscience
https://www.readbyqxmd.com/read/28296682/causes-and-characteristics-of-death-in-intensive-care-units-a-prospective-multicenter-study
#7
Jean-Christophe Orban, Yannick Walrave, Nicolas Mongardon, Bernard Allaouchiche, Laurent Argaud, Frédéric Aubrun, Geneviève Barjon, Jean-Michel Constantin, Gilles Dhonneur, Jacques Durand-Gasselin, Hervé Dupont, Michèle Genestal, Chloé Goguey, Philippe Goutorbe, Bertrand Guidet, Hervé Hyvernat, Samir Jaber, Jean-Yves Lefrant, Yannick Mallédant, Jerôme Morel, Alexandre Ouattara, Nicolas Pichon, Anne-Marie Guérin Robardey, Michel Sirodot, Alexandre Theissen, Sandrine Wiramus, Laurent Zieleskiewicz, Marc Leone, Carole Ichai
BACKGROUND: Different modes of death are described in selected populations, but few data report the characteristics of death in a general intensive care unit population. This study analyzed the causes and characteristics of death of critically ill patients and compared anticipated death patients to unexpected death counterparts. METHODS: An observational multicenter cohort study was performed in 96 intensive care units. During 1 yr, each intensive care unit was randomized to participate during a 1-month period...
March 15, 2017: Anesthesiology
https://www.readbyqxmd.com/read/28295538/authorised-access-web-portal-for-italiandata-bank-on-sudden-unexpected-perinatal-and-infant-death
#8
Giulia Ottaviani, Paolo Perlasca, Marco Mesiti, Luca Ferrari, Anna M Lavezzi
Sudden infant death syndrome (SIDS) is common during the first year of life and affects 0.40every 1,000 births (1). Stillbirths are seven times more common than SIDS; in 40-80% of cases remain unexplained and are categorised as sudden intrauterine unexpected death syndrome (2).In 2006 Italy passed legislation that fetuses, and infants, from 25 weeks of gestation to one postnatal year, that died suddenly and unexpectedly should be sent to the University of Milan, Italy, for an in-depth diagnostic post-mortem with parental permission (3)...
March 15, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28295038/gonadal-mosaicism-of-a-novel-iqsec2-variant-causing-female-limited-intellectual-disability-and-epilepsy
#9
Lisa J Ewans, Michael Field, Ying Zhu, Gillian Turner, Melanie Leffler, Marcel E Dinger, Mark J Cowley, Michael F Buckley, Ingrid E Scheffer, Matilda R Jackson, Tony Roscioli, Cheryl Shoubridge
We report a family with four girls with moderate to severe intellectual disability and epilepsy. Two girls showed regression in adolescence and died of presumed sudden unexpected death in epilepsy at 16 and 22 years. Whole exome sequencing identified a truncating pathogenic variant in IQSEC2 at NM_001111125.2: c.2679_2680insA, p.(D894fs*10), a recently identified cause of epileptic encephalopathy in females (MIM 300522). The IQSEC2 variant was identified in both surviving affected sisters but in neither parent...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28284506/sudden-cardiac-death-the-role-of-imaging
#10
Pieter van der Bijl, Victoria Delgado, Jeroen J Bax
Sudden cardiac death (SCD) is defined as "a non-traumatic, unexpected, fatal event occurring within one hour of the onset of symptoms in an apparently healthy subject", and it causes a fifth of all deaths worldwide. It often occurs in individuals not previously known with cardiac disease, which makes prevention challenging. The mechanism underlying SCD is thought to be a trigger (e.g. ischemia) acting upon a substrate (e.g. scar), causing a lethal arrhythmia. Primary prevention refers to patients at high risk of SCD and secondary prevention to those who have had an aborted episode of SCD...
March 6, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28283548/smooth-muscle-cell-specific-deletion-of-col15a1-unexpectedly-leads-to-impaired-development-of-advanced-atherosclerotic-lesions
#11
Brittany G Durgin, Olga A Cherepanova, Delphine Gomez, Themistoclis Karaoli, Gabriel F Alencar, Joshua T Butcher, Yu-Qing Zhou, Michelle P Bendeck, Brant E Isakson, Gary K Owens, Jessica J Connelly
Atherosclerotic plaque rupture with subsequent embolic events is a major cause of sudden death from myocardial infarction or stroke. Although smooth muscle cells (SMC) produce and respond to collagens in vitro, there is no direct evidence in vivo that SMC are a crucial source of collagens and that this impacts lesion development or fibrous cap formation. We sought to determine how conditional SMC specific knockout of collagen type XV (COL15A1) in SMC lineage tracing mice affects advanced lesion formation given: 1) we previously identified a Col15a1 sequence variant associated with age related atherosclerosis; 2) COL15A1 is a matrix organizer enhancing tissue structural integrity; and 3) siRNA mediated Col15a1 knockdown increased migration and decreased proliferation of cultured human SMC...
March 10, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28282256/new-evidence-on-end-of-life-hospital-utilization-for-enhanced-health-policy-and-services-planning
#12
Donna M Wilson, Ye Shen, Stephen Birch
BACKGROUND: Long-standing concern exists over hospital use by people near or at the end of life (EOL) related to the appropriateness, quality, and cost of care in hospital. It is widely believed that most people die in hospital after an escalation in hospital use over the last year of life. As most deaths in high-income countries are not sudden or unexpected, opportunities exist for planning compassionate, effective, and evidence-based EOL care. OBJECTIVE: Gain current population-based evidence for EOL health policy and services planning...
March 10, 2017: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/28281492/comorbidities-of-epilepsy
#13
REVIEW
H V Srinivas, Urvashi Shah
In epilepsy management, control of seizures is the prime objective. However, the quality of life is affected by comorbid conditions that include the neurological, neuropsychiatric, and neurobehavioural disorders. These are not only reactive processes to a chronic condition but also have a bidirectional relationship, sharing common underlying pathogenesis. This article besides addressing these issues also explores the therapeutic management. A systematic search of PubMed from Jan 2006 to August 2016 was undertaken using the terms "comorbidities" and "epilepsy...
2017: Neurology India
https://www.readbyqxmd.com/read/28276303/abnormal-muscularization-of-intra-acinar-pulmonary-arteries-in-two-cases-presenting-as-sudden-infant-death
#14
Khairul Zainun, Kirsten Hope, Andrew G Nicholson, Marta C Cohen
Abnormal muscularization of acinar arteries is the hallmark of persistent pulmonary hypertension of newborn (PPHN), an uncommon disease with high rate of morbidity and mortality. PPHN presents with signs of respiratory distress immediately following birth. We herein report 2 cases presenting as a witnessed sudden unexpected death in the late neonatal period, preceded by respiratory deterioration and in whom the presence of abnormal muscularization of the acinar pulmonary arteries was reminiscent of PPHN. The significance of this report is twofold: to increase the awareness among pediatricians and pathologists of this feature that can present in some cases of Sudden Unexpected Death in Infancy/Sudden Infant Death Syndrome, and to highlight the importance of performing a thorough autopsy in order to identify the abnormality...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28272506/a-murine-model-to-study-epilepsy-and-sudep-induced-by-malaria-infection
#15
Paddy Ssentongo, Anna E Robuccio, Godfrey Thuku, Derek G Sim, Ali Nabi, Fatemeh Bahari, Balaji Shanmugasundaram, Myles W Billard, Andrew Geronimo, Kurt W Short, Patrick J Drew, Jennifer Baccon, Steven L Weinstein, Frank G Gilliam, José A Stoute, Vernon M Chinchilli, Andrew F Read, Bruce J Gluckman, Steven J Schiff
One of the largest single sources of epilepsy in the world is produced as a neurological sequela in survivors of cerebral malaria. Nevertheless, the pathophysiological mechanisms of such epileptogenesis remain unknown and no adjunctive therapy during cerebral malaria has been shown to reduce the rate of subsequent epilepsy. There is no existing animal model of postmalarial epilepsy. In this technical report we demonstrate the first such animal models. These models were created from multiple mouse and parasite strain combinations, so that the epilepsy observed retained universality with respect to genetic background...
March 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28268489/predicting-seizures-in-untreated-temporal-lobe-epilepsy-using-point-process-nonlinear-models-of-heartbeat-dynamics
#16
G Valenza, A Romigi, L Citi, F Placidi, F Izzi, M Albanese, E P Scilingo, M G Marciani, A Duggento, M Guerrisi, N Toschi, R Barbieri
Symptoms of temporal lobe epilepsy (TLE) are frequently associated with autonomic dysregulation, whose underlying biological processes are thought to strongly contribute to sudden unexpected death in epilepsy (SUDEP). While abnormal cardiovascular patterns commonly occur during ictal events, putative patterns of autonomic cardiac effects during pre-ictal (PRE) periods (i.e. periods preceding seizures) are still unknown. In this study, we investigated TLE-related heart rate variability (HRV) through instantaneous, nonlinear estimates of cardiovascular oscillations during inter-ictal (INT) and PRE periods...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28259227/prehospital-predictors-of-initial-shockable-rhythm-in-out-of-hospital-cardiac-arrest-findings-from-the-taichung-sudden-unexpected-death-registry-thunder
#17
Yen-Nien Lin, Shih-Sheng Chang, Lee-Min Wang, Hwan-Ting Chi, Kwo-Chang Ueng, Chin-Feng Tsai, Chee-Seong Phan, Li-Hua Lu, Choon-Hoon Hii, Yu-Ting Chung, Sumeet S Chugh, Ming-Fong Chen, Tsu-Juey Wu, Kuan-Cheng Chang
OBJECTIVE: To identify the incidence and prehospital predictors of ventricular tachycardia/ventricular fibrillation (VT/VF) as the initial arrhythmia in patients with out-of-hospital cardiac arrest (OHCA) in central Taiwan. PATIENTS AND METHODS: The Taichung Sudden Unexpected Death Registry program encompasses the Taichung metropolitan area in central Taiwan, with a population of 2.7 million and 17 destination hospitals for patients with OHCA. We performed a detailed analysis of demographic characteristics, circumstances of cardiac arrest, and emergency medical service records using the Utstein Style...
March 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28255936/sudden-arrhythmic-death-during-exercise-a-post-mortem-genetic-analysis
#18
Oscar Campuzano, Olallo Sanchez-Molero, Anna Fernandez, Irene Mademont-Soler, Monica Coll, Alexandra Perez-Serra, Jesus Mates, Bernat Del Olmo, Ferran Pico, Laia Nogue-Navarro, Georgia Sarquella-Brugada, Anna Iglesias, Sergi Cesar, Esther Carro, Juan Carlos Borondo, Josep Brugada, Josep Castellà, Jordi Medallo, Ramon Brugada
BACKGROUND: Sudden cardiac death is a natural and unexpected death that occurs within 1 h of the first symptom. Most sudden cardiac deaths occur during exercise, mostly as a result of myocardial infarction. After autopsy, some cases, especially in the young, are diagnosed as cardiomyopathies or remain without a conclusive cause of death. In both situations, genetic alterations may explain the arrhythmia. OBJECTIVE: Our aim was to identify a genetic predisposition to sudden cardiac death in a cohort of post-mortem cases of individuals who died during exercise, with a structurally normal heart, and were classified as arrhythmogenic death...
March 3, 2017: Sports Medicine
https://www.readbyqxmd.com/read/28247213/microrna-20b-suppresses-the-expression-of-zfp-148-in-viral-myocarditis
#19
Hong-Fei Xu, Xiang-Ting Gao, Jun-Yi Lin, Xue-Hua Xu, Jun Hu, Yu-Jie Ding, Shao-Hua Zhu
Viral myocarditis is a common cardiovascular disease, which seriously endangers the health of people and even leads to sudden unexpected death. MicroRNAs play very important roles in various physical and pathological processes including cardiogenesis and heart diseases. In recent years, miR-20b has been implicated in various diseases such as breast cancer, gastric cancer, hepatocellular carcinoma, cardiovascular diseases. However, the function of miR-20b in the pathological progress of viral myocarditis has not been reported...
February 28, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28243770/sudden-aortic-death-proposal-for-a-comprehensive-diagnostic-approach-in-forensic-and-in-clinical-pathology-practice
#20
Hans H de Boer, Fabrice Dedouit, Nina Chappex, Allard C van der Wal, Katarzyna Michaud
BACKGROUNDS: Aortic rupture or dissection as immediate cause of sudden death is encountered in forensic and clinical autopsy practice. Despite a common denominator of 'sudden aortic death' (SAD), we expect that in both settings the diagnostic workup, being either primarily legal or primarily disease related, differs substantially, which may affect the eventual diagnoses. METHODS: We retrospectively reviewed case records of deceased persons who fitted a diagnosis of SAD in the continuous autopsy cohorts in a forensic (Suisse) and a clinical setting (The Netherlands)...
February 27, 2017: International Journal of Legal Medicine
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