scholarly journals Sudden unexpected death in genetic epileptic encephalopathies: a role of neurocardiac genes

2018 ◽  
Vol 10 (3) ◽  
pp. 63-70
Author(s):  
E. D. Belousova ◽  
M. A. Shkolnikova
Keyword(s):  
High Risk ◽  
Sudden Unexpected Death ◽  
Dravet Syndrome ◽  
Unexpected Death ◽  
Sodium Potassium ◽  
Epileptic Encephalopathies ◽  
Increased Risk ◽  
Clinical Conditions ◽  
Cultured Cardiomyocytes

It is well known that sudden unexpected death in epilepsy (SUDEP) is one of the most significant factors of mortality in epileptic patients. There is an increased risk of SUDEP in genetic epileptic encephalopathies (EE), partly because those syndromes are associated with mutations in the “neurocardiac” genes, which have been implicated in both epilepsy and cardiac arrhythmias. In these clinical conditions, functions of ion selective channels (sodium, potassium and etc.) are affected; for example, in children with Dravet syndrome, the risk of SUDEP is 40 times higher than that in children with common epilepsy syndromes. In a murine model of SCN1A epilepsy, a prolongation of QT interval coincided with a seizure; in addition, an excessive excitability of cultured cardiomyocytes was demonstrated. A high risk of SUDEP is characteristic for EE caused by mutation in the SCN8A gene. Other prognostic biomarkers of SUDEP may include mutations in sodium channel genes, such as SCN4A, SCN10A, and SCN11A. Our knowledge about SUDEP associated with potassium channel dysfunctions is still very limited. There are likely some mutations in other genes, that can modify (increase or decrease) the risk of SUDEP in EE. If patients with genetic EE are indeed at a high risk for SUDEP, they must be followed up by cardiologists alongside with neurologists. Provided this hypothesis is proved, any newly diagnosed arrhythmia should be carefully monitored and treated (with medications and/or interventions), in order to improve the survival rate in genetic EE.

scholarly journals Fish consumption, contaminants and sudden unexpected death in epilepsy: many more benefits than risks

2010 ◽  
Vol 70 (3) ◽  
pp. 665-670 ◽  
Author(s):  
FA. Scorza ◽  
RM. Cysneiros ◽  
RM. Arida ◽  
VC. Terra ◽  
HR. Machado ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Fish Consumption ◽  
Sudden Unexpected Death ◽  
Omega 3 Fatty Acids ◽  
Omega 3 ◽  
Unexpected Death ◽  
Positive Effects ◽  
Increased Risk ◽  
Fish And Shellfish

People with epilepsy have an increased risk of dying prematurely and the most common epilepsy-related category of death is sudden unexpected death in epilepsy (SUDEP). SUDEP is mainly a problem for patients with chronic uncontrolled epilepsy. The ultimate goal of research in SUDEP is to develop new methods to prevent it and actions other than medical and surgical therapies that could be very useful. Nutritional aspects, i.e., omega-3 fatty acids deficiency, could have an interesting role in this scenario. Some animal and clinical studies have suggested that omega-3 fatty acids could be useful in the prevention and treatment of epilepsy and hence SUDEP. It has been ascertained that the only foods that provide large amounts of omega-3 are seafood (fish and shellfish); however, some fish are contaminated with methylmercury, which may counteract the positive effects of omega-3 fatty acids. Our update review summarises the knowledge of the role of fish consumption on epilepsy research.

scholarly journals Altered A-type potassium channel function in the nucleus tractus solitarii in acquired temporal lobe epilepsy

2019 ◽  
Vol 121 (1) ◽  
pp. 177-187 ◽  
Author(s):  
Isabel D. Derera ◽  
Katalin Cs. Smith ◽  
Bret N. Smith
Keyword(s):  
Temporal Lobe Epilepsy ◽  
Mouse Models ◽  
Temporal Lobe ◽  
Neuronal Excitability ◽  
Gabaergic Neurons ◽  
Nucleus Tractus Solitarii ◽  
Sudden Unexpected Death ◽  
Inactivation Kinetics ◽  
Unexpected Death ◽  
Increased Risk

Sudden unexpected death in epilepsy (SUDEP) is among the leading causes of death in people with epilepsy. Individuals with temporal lobe epilepsy (TLE) have a high risk for SUDEP because the seizures are often medically intractable. Neurons in the nucleus tractus solitarii (NTS) have been implicated in mouse models of SUDEP and play a critical role in modulating cardiorespiratory and autonomic output. Increased neuronal excitability of inhibitory, GABAergic neurons in the NTS develops during epileptogenesis, and NTS dysfunction has been implicated in mouse models of SUDEP. In this study we used the pilocarpine-induced status epilepticus model of TLE (i.e., pilo-SE mice) to investigate the A-type voltage-gated K+ channel as a potential contributor to increased excitability in GABAergic NTS neurons during epileptogenesis. Compared with age-matched control mice, pilo-SE mice displayed an increase in spontaneous action potential frequency and half-width 9–12 wk after treatment. Activity of GABAergic NTS neurons from pilo-SE mice showed less sensitivity to 4-aminopyridine. Correspondingly, reduced A-type K+ current amplitude was detected in these neurons, with no change in activation or inactivation kinetics. No changes were observed in Kv4.1, Kv4.2, Kv4.3, KChIP1, KChIP3, or KChIP4 mRNA expression. These changes contribute to the increased excitability in GABAergic NTS neurons that develops in TLE and may provide insight into potential mechanisms contributing to the increased risk for cardiorespiratory collapse and SUDEP in this model. NEW & NOTEWORTHY Sudden unexpected death in epilepsy (SUDEP) is a leading cause of death in epilepsy, and dysfunction in central autonomic neurons may play a role. In a mouse model of acquired epilepsy, GABAergic neurons in the nucleus tractus solitarii developed a reduced amplitude of the A-type current, which contributes to the increased excitability seen in these neurons during epileptogenesis. Neuronal excitability changes in inhibitory central vagal circuitry may increase the risk for cardiorespiratory collapse and SUDEP.

scholarly journals Probable Sudden Unexpected Death in Dogs With Epilepsy (pSUDED)

2021 ◽  
Vol 8 ◽  
Author(s):  
Enrice Huenerfauth ◽  
Jasmin Nessler ◽  
Johannes Erath ◽  
Andrea Tipold
Keyword(s):  
Status Epilepticus ◽  
Sudden Unexpected Death ◽  
Idiopathic Epilepsy ◽  
Occurrence Rate ◽  
Online Questionnaire ◽  
Unexpected Death ◽  
Validated Questionnaire ◽  
Seizure Event ◽  
Increased Risk ◽  
Cluster Seizures

Sudden unexpected death in human epileptic patients (SUDEP) is defined as death related to recurrent unprovoked seizures, death occurring unexpectedly, and suddenly in a patient with reasonable state of health, without an obvious medical cause of death, trauma, asphyxia, or intractable status epilepticus, and in post mortem examination no obvious reason for death can be found. “Probable SUDEP” (pSUDEP) is defined as SUDEP not confirmed pathologically. The adapted abbreviation for dogs is used in the following: “pSUDED” (probable sudden unexpected death in dogs with epilepsy). The aim of the present monocentric retrospective study using an online questionnaire was to evaluate the occurrence of pSUDED. Data of canine patients presented with seizures between 01/1998 and 05/2018 were retrospectively analyzed and classified according to their etiology (n = 1,503). Owners were contacted by telephone to participate in answering a validated questionnaire. A total of 509 owners were reached, and 373 owners completed the questionnaire. In addition to signalement (e.g., breed), special attention was paid to the frequency and presentation of seizures and seizures in the context of death. Fifty-one percent (191/373) of the dogs were dead at the endpoint of the study. A large proportion of the dogs was euthanized (149/191) because of seizure severity or health problems unrelated to seizures. Idiopathic epilepsy (IE) was diagnosed in 19/34 dogs which died unexpectedly. Of these seven animals had to be excluded for further investigation of pSUDED because of status epilepticus or aspiration pneumonia as a result of the seizures. In 12 dogs with IE the last seizure event occurred between 6 h and ~3 months before death. pSUDED was suspected in these dogs and an occurrence rate of 4.5–10% was calculated. pSUDED appears in a similar occurrence rate as human SUDEP and should be considered as a possible complication in epileptic dogs. The results of this study suggest that dogs with IE but especially those with brachycephalic syndrome and cluster seizures have an increased risk to die of pSUDED. Owners of dogs with seizures should be educated about the risk of sudden death in dogs with epilepsy.

TBC1D24 gene mutations are associated with high risk of sudden unexpected death

2017 ◽  
Vol 72 ◽  
pp. 208-209 ◽  
Author(s):  
M. Trivisano ◽  
M. Bellusci ◽  
A. Terracciano ◽  
L. De Palma ◽  
N. Pietrafusa ◽  
...  
Keyword(s):  
High Risk ◽  
Gene Mutations ◽  
Sudden Unexpected Death ◽  
Unexpected Death

scholarly journals Comprehensive Assessment of Diet Quality and Risk of Precursors of Early-Onset Colorectal Cancer

2020 ◽  
Author(s):  
Xiaobin Zheng ◽  
Jinhee Hur ◽  
Long H Nguyen ◽  
Jie Liu ◽  
Mingyang Song ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
High Risk ◽  
Diet Quality ◽  
Early Onset ◽  
Strong Support ◽  
Healthy Eating Index ◽  
Malignant Potential ◽  
Poor Diet ◽  
Increased Risk

Abstract Background The role of poor diet quality in the rising incidence of colorectal cancer (CRC) diagnosed under age 50 has not been explored. Based on molecular features of early-onset CRC, early-onset adenomas are emerging surrogate endpoints. Methods In a prospective cohort study (Nurses’ Health Study II), we evaluated two empirical dietary patterns (Western and prudent) and three recommendation-based indexes (Dietary Approaches to Stop Hypertension [DASH], Alternative Mediterranean Diet [AMED], and Alternative Healthy Eating Index [AHEI]-2010) with risk of early-onset adenoma overall and by malignant potential (high-risk: ≥1 cm, tubulovillous/villous histology, high-grade dysplasia, or ≥ 3 adenomas), among 29474 women with ≥1 lower endoscopy before age 50 (1991-2011). Multivariable logistic regressions were used to estimate odds ratios (ORs) and 95% confidence intervals (CIs). Results We documented 1157 early-onset adenomas with 375 of high-risk. Western diet was positively, whereas prudent diet, DASH, AMED, and AHEI-2010 were inversely associated with risk of early-onset adenoma. The associations were largely confined to high-risk adenomas (OR [95% CI] for the highest versus lowest quintile: Western = 1.67 [1.18 to 2.37]; prudent = 0.69 [0.48 to 0.98]; DASH = 0.65 [0.45 to 0.93]; AMED = 0.55 [0.38 to 0.79]; AHEI-2010 = 0.71 [0.51 to 1.01]; all P  trend≤.03), driven by those identified in the distal colon and rectum (all P  trend≤.04 except AMED: Ptrend=.14). Conclusion Poor diet quality was associated with an increased risk of early-onset distal and rectal adenomas of high malignant potential. These findings provide preliminary but strong support to the role of diet in early-onset CRC.

A possible role of cyclooxygenase-2 in the relationship between sleep and sudden unexpected death in epilepsy

Epilepsia ◽  
2012 ◽  
Vol 53 (10) ◽  
pp. 1846-1848 ◽  
Author(s):  
Gabriela Matos ◽  
Laura Bennedsen ◽  
Vanessa A. Garcia ◽  
Fulvio A. Scorza ◽  
Esper A. Cavalheiro ◽  
...  
Keyword(s):  
Cyclooxygenase 2 ◽  
Sudden Unexpected Death ◽  
Unexpected Death ◽  
The Relationship

Role of Montgomery salivary stent placement during pharyngolaryngectomy, to prevent pharyngocutaneous fistula in high-risk patients

2012 ◽  
Vol 127 (1) ◽  
pp. 54-57 ◽  
Author(s):  
S Bondi ◽  
L Giordano ◽  
P Limardo ◽  
M Bussi
Keyword(s):  
Statistical Analysis ◽  
High Risk ◽  
Retrospective Analysis ◽  
Stent Placement ◽  
Pharyngocutaneous Fistula ◽  
Preventive Effect ◽  
Increased Risk ◽  
Risk Patients ◽  
Base Of The Tongue

AbstractObjective:To evaluate the incidence of pharyngocutaneous fistula after pharyngolaryngectomy with and without a Montgomery salivary stent.Design:Retrospective analysis of patients with factors that predispose to the development of pharyngocutaneous fistula (i.e. disease extending to the supraglottic region, base of the tongue or pyriform sinuses, and/or radiochemotherapy).Subjects:Between 2002 and 2008, 85 pharyngolaryngectomies were performed in our clinic. Of these patients, 31 were at increased risk of fistula development, of whom 45 per cent developed fistulas post-operatively. This subgroup of 31 patients was compared with a second subgroup of 22 patients at high risk of fistula development, treated between 2009 and 2011 with pharyngolaryngectomy and with a Montgomery salivary stent placed in advance during closure of the neopharynx.Results:Statistical analysis showed a significant reduction in the rate of fistula development, from 45 to 9 per cent (p < 0.01), with application of the salivary stent.Conclusion:These data confirm the preventive effect of a salivary stent placed during pharyngolaryngectomy, for patients at high risk of fistula development.

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