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https://www.readbyqxmd.com/read/29786598/-hypertrophic-cardiomyopathy-an-intraoperative-death-case-analysis-and-substantiation-of-the-standards-of-perioperative-anesthetic-management-in-a-non-cardiosurgery-clinic
#1
Roman N Fedosiuk, Liliia O Shchupachynska
The article is based on the case analysis of a sudden and unexpected intraoperative death of a 51-year-old female patient with hypertrophic cardiomyopathy, who was undergoing a non-cardiac operation in a non-cardiosurgery clinic, from acute precipitation of left ventricular outflow tract obstruction provoked by surgery and anesthesia. It emphasizes the importance of raising non-cardiac anesthesiologists' awareness of the issue and having clear standards of pre-operative evaluation and perioperative management of patients with hypertrophic cardiomyopathy in order to avoid fatal medical errors...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29782639/sudden-cardiac-death-in-athletes-and-the-value-of-cardiovascular-magnetic-resonance
#2
REVIEW
Sophie I Mavrogeni, Flora Bacopoulou, Despoina Apostolaki, George P Chrousos
Sudden cardiac death (SCD) is the non-traumatic death, due to loss of heart function that occurs suddenly and unexpectedly within 6 hours of a previously normal state of health. It is related to intense competitive sports promoting ventricular tachycardia (VT)/ventricular fibrillation (VF) in the presence of underlying abnormal substrate. A serial evaluation of cardiac physiologic changes taking place during training will allow the better understanding of athlete's heart and will facilitate its discrimination from other gray-zone cardiomyopathies...
May 21, 2018: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29771456/serum-serotonin-levels-in-patients-with-epileptic-seizures
#3
Arun Murugesan, M R Sandhya Rani, Johnson Hampson, Bilal Zonjy, Nuria Lacuey, Carl L Faingold, Daniel Friedman, Orrin Devinsky, Rup K Sainju, Stephan Schuele, Beate Diehl, Maromi Nei, Ronald M Harper, Lisa M Bateman, George Richerson, Samden D Lhatoo
Profound cardiovascular and/or respiratory dysfunction is part of the terminal cascade in sudden unexpected death in epilepsy (SUDEP). Central control of ventilation is mediated by brainstem rhythm generators, which are influenced by a variety of inputs, many of which use the modulatory neurotransmitter serotonin to mediate important inputs for breathing. The aim of this study was to investigate epileptic seizure-induced changes in serum serotonin levels and whether there are potential implications for SUDEP...
May 17, 2018: Epilepsia
https://www.readbyqxmd.com/read/29759045/neuropathological-developments-in-sudden-infant-death-syndrome
#4
Fiona M Bright, Robert Vink, Roger W Byard
A wide variety of neuropathological abnormalities have been investigated in infants who have died of sudden infant death syndrome (SIDS). Issues which detracted from early studies included failure to use uniform definitions of SIDS and lack of appropriately matched control populations. Development of the triple risk model focused attention on the concept of an inherent susceptibility to unexpected death in certain infants, with research demonstrating a role for the neurotransmitter serotonin within the brainstem...
January 1, 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29747022/detection-of-generalized-tonic-clonic-seizures-from-ear-eeg-based-on-emg-analysis
#5
I C Zibrandtsen, P Kidmose, T W Kjaer
PURPOSE: Sudden unexpected death in epilepsy (SUDEP) is associated with generalized tonic-clonic seizures (GTCS) with most deaths occurring during sleep. Seizure detection devices have been suggested as a SUDEP prevention strategy. EMG-based GTCS detection can take advantage of the GTCS characteristic of sustained high-amplitude, high-frequency activity in the time-domain. METHOD: We present a GTCS-detection method based on median-filtered variance estimates on surface EMG measurements and describe its performance in a small exploratory proof-of-concept setting involving a group of 15 patients with 3 GTCS recorded with ear-EEG and another group of 6 patients with 11 GTCS recorded with scalp-EEG...
May 4, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29739726/new-onset-seizures-in-a-patient-with-long-qt-syndrome-lqts2-and-a-pathogenic-carboxyl-terminus-frameshift-variant-of-the-kcnh2-gene
#6
Katherine Zarroli, Henry Querfurth
In patients with Long QT Syndrome (LQTS), mutations in the potassium channel KCNH2 gene increase seizure susceptibility with missense mutations involving the pore region of the gene acting as a positive predictor of seizures. Seizures are less commonly reported in patients with carboxyl (C')-terminus mutations. This case report describes a young man who presented with syncope followed by a first seizure and was found to have LQTS caused by a pathogenic carboxyl-terminus deletion/frameshifting mutation of the KCNH2 gene...
May 5, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29720407/diagnostic-potential-of-stored-dried-blood-spots-for-inborn-errors-of-metabolism-a-metabolic-autopsy-of-medium-chain-acyl-coa-dehydrogenase-deficiency
#7
Noriyuki Kaku, Kenji Ihara, Yuichiro Hirata, Kenji Yamada, Sooyoung Lee, Hikaru Kanemasa, Yoshitomo Motomura, Haruhisa Baba, Tamami Tanaka, Yasunari Sakai, Yoshihiko Maehara, Shouichi Ohga
AIM: It is estimated that 1-5% of sudden infant death syndrome (SIDS) cases might be caused by undiagnosed inborn errors of metabolism (IEMs); however, the postmortem identification of IEMs remains difficult. This study aimed to evaluate the usefulness of dried blood spots (DBSs) stored after newborn screening tests as a metabolic autopsy to determine the causes of death in infants and children who died suddenly and unexpectedly. METHODS: Infants or toddlers who had suddenly died without a definite diagnosis between July 2008 and December 2012 at Kyushu University Hospital in Japan were enrolled in this study...
May 2, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29713356/sudden-unexpected-cardio-respiratory-arrest-after-venipuncture-in-children
#8
Goun Jeong, Son Moon Shin, Nam Su Kim, Young Min Ahn
Purpose: This study aimed to investigate the clinical and socioenvironmental characteristics of sudden cardiorespiratory arrest after venipuncture in children. Methods: We conducted a retrospective email-based survey of all members of the Korean Pediatric Society. The questionnaire included items on patient demographics, socioenvironmental circumstances of the venipuncture, type of cardiorespiratory arrest, symptoms and signs, treatment, prognosis, and presumed cause of the arrest...
April 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29712764/the-grief-of-mothers-after-the-sudden-unexpected-death-of-their-infants
#9
Richard D Goldstein, Ruth I Lederman, Wendy G Lichtenthal, Sue E Morris, Melanie Human, Amy J Elliott, Deb Tobacco, Jyoti Angal, Hein Odendaal, Hannah C Kinney, Holly G Prigerson
: media-1vid110.1542/5741323271001PEDS-VA_2017-3651 Video Abstract BACKGROUND: The loss of a child is associated with elevated grief severity, and sudden infant death syndrome (SIDS) is the leading cause of postneonatal mortality in the United States. The diagnosis of prolonged grief disorder (PGD) has gained broader acceptance and use. Little is known about PGD in mothers after SIDS. METHODS: Between May 2013 and July 2016, we assessed 49 SIDS-bereaved mothers living in informal settlements near Cape Town, South Africa, and on the Pine Ridge Indian Reservation and 359 SIDS-bereaved mothers affiliated with SIDS parent-support organizations in the United States, United Kingdom, Australia, New Zealand, and the Netherlands...
April 30, 2018: Pediatrics
https://www.readbyqxmd.com/read/29710173/preventing-sudden-unexpected-death-in-epilepsy
#10
Orrin Devinsky, Philippe Ryvlin, Daniel Friedman
No abstract text is available yet for this article.
April 16, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29708509/depdc5-takes-a-second-hit-in-familial-focal-epilepsy
#11
Matthew P Anderson
Loss-of-function mutations in a single allele of the gene encoding DEP domain-containing 5 protein (DEPDC5) are commonly linked to familial focal epilepsy with variable foci; however, a subset of patients presents with focal cortical dysplasia that is proposed to result from a second-hit somatic mutation. In this issue of the JCI, Ribierre and colleagues provide several lines of evidence to support second-hit DEPDC5 mutations in this disorder. Moreover, the authors use in vivo, in utero electroporation combined with CRISPR-Cas9 technology to generate a murine model of the disease that recapitulates human manifestations, including cortical dysplasia-like changes, focal seizures, and sudden unexpected death...
April 30, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29708508/second-hit-mosaic-mutation-in-mtorc1-repressor-depdc5-causes-focal-cortical-dysplasia-associated-epilepsy
#12
Théo Ribierre, Charlotte Deleuze, Alexandre Bacq, Sara Baldassari, Elise Marsan, Mathilde Chipaux, Giuseppe Muraca, Delphine Roussel, Vincent Navarro, Eric Leguern, Richard Miles, Stéphanie Baulac
DEP domain-containing 5 protein (DEPDC5) is a repressor of the recently recognized amino acid-sensing branch of the mTORC1 pathway. So far, its function in the brain remains largely unknown. Germline loss-of-function mutations in DEPDC5 have emerged as a major cause of familial refractory focal epilepsies, with case reports of sudden unexpected death in epilepsy (SUDEP). Remarkably, a fraction of patients also develop focal cortical dysplasia (FCD), a neurodevelopmental cortical malformation. We therefore hypothesized that a somatic second-hit mutation arising during brain development may support the focal nature of the dysplasia...
April 30, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29706419/cardiac-abnormalities-in-parkinson-s-disease-and-parkinsonism
#13
REVIEW
Fulvio A Scorza, Ana C Fiorini, Carla A Scorza, Josef Finsterer
OBJECTIVES: Though there is increasing evidence for primary cardiac disease in Parkinson's disease (PD) and Parkinsonism (PS), this evidence is hardly included in the general management of these patients. METHODS: Literature review. RESULTS: PD is one of the most common age-related neurodegenerative disorders. Epidemiological studies have shown that PD is accompanied by high rates of premature death compared with the general population. In general, death in PD/PS is usually caused by determinant factors such as pneumonia, cerebrovascular, and cardiovascular disease...
April 26, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29700085/valproate-life-saving-life-changing
#14
Rhys H Thomas
Antiepileptic medications, and valproate principally, are commonly prescribed teratogens. There is significant concern that we are not doing enough to educate clinicians and potential parents about the risks of valproate in pregnancy. There is clear advice from the Medicines and Healthcare products Regulatory Agency and the International League Against Epilepsy about the risks of valproate exposure in utero Reviews and guidelines that are focused on fetal risk, however, fall short in being able to fully replicate the complexity of a real clinical decision...
April 1, 2018: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/29697739/sudden-unexpected-death-in-parkinson-s-disease-sudpar-a-fatal-event-that-james-parkinson-did-not-address
#15
Fulvio A Scorza, Ana C Fiorini, Carla A Scorza, Josef Finsterer
No abstract text is available yet for this article.
April 25, 2018: Age and Ageing
https://www.readbyqxmd.com/read/29692972/postictal-neurogenic-pulmonary-edema-case-report-and-brief-literature-review
#16
Oscar Mauricio Romero Osorio, Juan Felipe Abaunza Camacho, Diana Sandoval Briceño, Pieralessandro Lasalvia, Daniel Narino Gonzalez
Cardiopulmonary complications associated with epilepsy are generally associated with generalized tonic-clonic seizures, as a consequence of systemic adrenergic discharge and release of inflammatory mediators. We present a case of a 34-year-old woman with a history of Focal epilepsy since adolescence, who presented self-limited pulmonary edema following a focal to bilateral tonic-clonic seizure with subsequent resolution of the symptoms. We also made a brief review of neurogenic pulmonary edema, its proposed pathophysiology, treatment and its relation with sudden unexpected death in epilepsy (SUDEP)...
2018: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/29687676/can-sudden-cardiac-death-in-the-young-be-predicted-and-prevented-lessons-from-autopsy-for-the-emergency-physician
#17
Jennifer L White, Anna Marie Chang, Sergi Cesar, Georgia Sarquella-Brugada
Sudden unexpected death in the young, though rare, is devastating for both the family and the community. Although only 1.3 to 8.5 cases of sudden cardiac death (SCD) occur per 100 000 young people, autopsy is often inconclusive. Many causes of SCD are related to autosomal dominant inherited risk, however; therefore, answers are important for survivors. Causes of autopsy-positive SCD in young patients include hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia. Autopsy-negative SCD has been related to inherited arrhythmogenic causes such as long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, Wolff- Parkinson-White syndrome, and idiopathic ventricular fibrillation...
June 2018: Emergencias: revista de la Sociedad Española de Medicina de Emergencias
https://www.readbyqxmd.com/read/29680425/prevalence-and-characteristics-of-sleep-disordered-breathing-in-familial-dysautonomia
#18
Kanwaljit Singh, Jose-Alberto Palma, Horacio Kaufmann, Nataliya Tkachenko, Lucy Norcliffe-Kaufmann, Christy Spalink, Mikhail Kazachkov, Sanjeev V Kothare
OBJECTIVE: Familial dysautonomia (FD) is an autosomal recessive disorder characterized by impaired development of sensory and afferent autonomic nerves. Untreated sleep-disordered breathing (SDB) has been reported to increase the risk of sudden unexpected death in FD. We aimed to describe the prevalence and characteristics of SDB in FD. PATIENTS/METHODS: Seventy-five patients with FD (20 adults and 55 children) underwent in-lab polysomnography, including peripheral capillary oxygen saturation (SpO2 ) and end-tidal capnography (EtCO2 ) measurements...
May 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29668190/bedsharing-at-home-breastfeeding-and-sudden-infant-death-recommendations-for-health-professionals
#19
Alejandro Jenik, Roxana Conti
The Sudden and Unexpected Infant Death Task Force together with the Subcommittee on Breastfeeding of the Sociedad Argentina de Pediatría have issued updated recommendations on bedsharing with the parents, a practice which remains controversial. Sleeping with the mother maximizes breastfeeding, which is protective against Sudden Infant Death. There is a small group of infants that have been associated with an increased risk of Sudden Infant Death and fatal sleeping accidents in certain circumstances. These hazards include parental smoking, sedating drugs or medication and alcohol consumption prior to sleep and sofa sharing situations...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29667458/sudden-unexpected-death-in-epilepsy-ongoing-challenges-in-finding-mechanisms-and-prevention
#20
Doungporn Ruthirago, Parunyou Julayanont, Amputch Karukote, Mohamed Shehabeldin, Kenneth Nugent
Patients with epilepsy have a significantly higher risk of death than the general population. Sudden unexpected death in epilepsy (SUDEP) is the leading cause of sudden death among patients with epilepsy. Despite on-going research, there are still deficits in our knowledge about the mechanisms, genetic factors, and prevention of SUDEP. Current evidence suggests that cardiac arrhythmias, respiratory dysfunction, and brainstem arousal system dysfunction are the major mechanisms of SUDEP, and animal models support the role of neurotransmitters, especially serotonin and adenosine, in pathophysiology of SUDEP...
April 18, 2018: International Journal of Neuroscience
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