Physical activity in sudden unexpected death in epilepsy: much more than a simple sport

Sudden unexpected death in epilepsy （SUDEP） is the most important direct epilepsy-related cause of death. Additionally, potential pathomechanisms for SUDEP is unknown, but it is very probable that cardiac arrhythmia during and between seizures, electrolyte disturbances, arrhythmogenic drugs or transmission of epileptic activity via the autonomic nervous system to the heart may play a potential role. Quite interestingly, clinical and experimental data have shown that physical activity can decrease seizure frequency, as well as lead to improved cardiovascular health in patients with epilepsy. Based on these facts, the purpose of this article is to review the body of literature of the possible contribution of physical exercise to the SUDEP prevention in a comprehensive manner.

Epileptic Seizure‑induced Cardiac Injury as a Cause of Sudden Unexpected Death in Epilepsy:Evidence from Pathological Analyses

Sudden unexpected death in epilepsy(SUDEP)is the most frequent cause of death in people with epilepsy.The detailed mechanisms of SUDEP have not been elucidated.Moreover,it is still difficult for clinicians to predict and prevent the occurrence of sudden death in patients with epilepsy.Seizure‑related cardiac complications were considered to play a significant role in the physiological changes that lead to SUDEP.This report described a case of sudden death of an 11‑year‑old boy with epilepsy.Detailed autopsy and pathological analyses were performed to determine the cause of death.Seizure‑induced myocardial fibrosis was observed and deemed to be the cause of SUDEP.This study clearly showed the importance of improving the protection of cardiac function in the reductions of sudden deaths among patients with epilepsy.In addition,further studies in the pathophysiology of patients with epilepsy may help in improving our understanding of the mechanisms of SUDEP and adding new insight into the development of seizure‑induced cardiovascular and respiratory changes that may contribute to sudden death in epileptics.

Multidisciplinary approach to suspected sudden unexpected infant death caused by milk-aspiration:A case report

BACKGROUND The term sudden unexpected infant death(SUID)is not always properly invoked.It refers to a broad range of conditions that sometimes defy classification.There is not only a strong emotional impact on the family,but such cases are also quite complex.Underlying causes may be multiple,not always readily apparent,and have potential repercussions,especially in terms of forensics.CASE SUMMARY A 5-month-old male baby was pronounced dead following acute lung failure and cardiopulmonary arrest.The parents had immediately rushed their child to the hospital,stating the baby was found prone and not breathing.Total-body postmortem computed tomography(PMCT)was performed,revealing a hypodense material of indeterminate nature within the main airways and areas of ground-glass parenchymal change.At autopsy,the respiratory tract mucosa appeared edematous and was coated with a whitish stringy material.There was widespread airspace reduction due to parenchymal collapse.Alveolar sacs and bronchial openings contained abundant amorphous material admixed with white blood cells.Immunohistochemical studies were performed,targeting CD15,CD68,and alpha-lactalbumin.Ultimately,the focus was on alpha-lactalbumin(milk protein),which showed marked immunopositivity within alveolar spaces.Cytoplasmic staining of macrophages was also particularly prominent.CONCLUSION Postmortem investigations are thus essential to identify causes of death and surrounding circumstances.PMCT is a useful tool in this setting,given the frequent dearth of autopsy findings and ambiguity as to cause of death in SUID cases.These findings,later confirmed by immunohistochemical investigations,were indicative of active pneumonia due to aspirated milk.The present account illustrates the importance a broad diagnostic approach to SUID in cases of forensic concern.PMCT is a very valuable aid in cases of forensic interest,as it can provide useful information in all those situations in which the cause of death is uncertain or there are no suggestive dynamics or lesions.

Long-term potentiation in autonomic ganglia:Potential role in cardiovascular disorders

Ganglionic long-term potentiation(gLTP) is an activitydependent,enduring enhancement of ganglionic transmission.This phenomenon may be induced in autonomic ganglia of an organism under certain conditions whererepetitive impulses surge from the central nervous system(CNS) to the periphery.Chronic stress,repetitive epileptic seizure or chronic use of CNS stimulants could induce gL TP,which would result in a long lasting heightening of sympathetic tone to the cardiovascular system causing hypertension and disturbed cardiac rhythm that may lead to sudden cardiac death.These conditions are briefly reviewed in this article.

Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199T>C in a healthy population in Rio Grande do Sul, Brazil

Objectives::To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil. Methods::This was an observational cross-sectional study with a convenience sampling strategy. The participants were recruited from the blood bank of the Hospital de Clínicas of Porto Alegre, Brazil. A total of 1000 healthy individuals from the state of Rio Grande do Sul were included. Genotyping for the c.199T>C and c.985A>G variants was performed using real-time polymerase chain reaction (PCR) and the PCR-restriction fragment length polymorphism (RFLP) technique, respectively. Individuals considered heterozygous for c.985A>G were subjected to additional acylcarnitine profile analysis using tandem mass spectrometry. Carrier frequency was obtained by calculating the ratio of heterozygous individuals to the total number of individuals analyzed and reported with a 95% confidence interval. Allele and genotype frequencies were calculated based on the Hardy-Weinberg equilibrium.Results::The c.985A>G variant was detected as heterozygotes in three individuals (frequency of the heterozygous genotype = 1:333, allele frequency= 0.0015, minimum frequency of MCADD= 1:444,444) whose acylcarnitine profiles were within normal limits. The c.199T>C variant was not identified.Conclusions::Considering the small sample size and associated allelic heterogeneity with MCADD, these findings are believed to denote the rarity or underdiagnosis of MCADD in southern Brazil. This study provides evidence for the need for further investigation to ascertain the contribution of these diseases to child morbidity and mortality in the country.