Early‐life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants

Advances in genetic testing have led to the identification of increasing numbers of novel gene mutations that underlie infantile‐onset epileptic encephalopathies. Recently, a mutagenesis screen identified a novel gene, SZT2, with no known protein function that has been linked to epileptogenesis in mice. Thus far, two clinical reports have identified children with different recessive mutations in SZT2 and varying clinical phenotypes. One case report described patients with epileptic encephalopathy and the other noted patients with cognitive deficiencies, but normal MRI and no epilepsy. This case report identifies novel mutations (a compound heterozygous frameshift and a nonsense variant) in the SZT2 gene with distinct clinical and radiographic findings relative to those previously reported. Our patient presented with intractable epilepsy at 2 months of age. Seizures were refractory to numerous antiepileptic medications and the patient finally achieved seizure cessation at age 3 years with a combination of divalproex and lamotrigine. Our patient had similar facial dysmorphisms (macrocephaly, high forehead, and down‐slanted palpebral fissures) to a previous case with truncating mutation. While developmental delay and cognitive deficiencies were present, our case had unique MRI findings suggesting migrational abnormalities not previously reported in other cases.     

布洛芬混悬滴剂和对乙酰氨基酚治疗小儿热性惊厥的疗效观察

目的 观察布洛芬混悬滴剂和对乙酰氨基酚治疗小儿热性惊厥(FS)的疗效。方法 选取2017年4月—2019年4月于本院就诊的FS患儿80例,随机分为对照组与观察组,每组40例,均进行抗惊厥、物理降温等常规治疗,在此基础上,对照组采用对乙酰氨基酚治疗,观察组采用布洛芬混悬滴剂治疗,观察2组临床疗效、退热效果、实验室检查结果(血红蛋白、血钠、血钙)及不良反应情况。结果 对照组治疗总有效率为77.5%,观察组为95%,差异有统计学意义(P<0.05);治疗后1 h,2组患儿体温差异无统计学意义(P>0.05),治疗后3 h、6 h,2组体温均低于服药前,观察组患儿体温低于对照组,差异有统计学意义(P<0.05);治疗后,2组血红蛋白、血钠、血钙浓度较服药前均显著升高(P<0.05),且观察组高于对照组(P<0.05);对照组不良反应率为7.5%,观察组为5%,差异无统计学意义(P>0.05)。结论 布洛芬混悬滴剂对小儿热性惊厥临床症状改善作用显著,值得推介。     

Validation of an algorithm of time-dependent electro-clinical risk stratification for electrographic seizures (TERSE) in critically ill patients

ObjectiveThe clinical implementation of continuous electroencephalography (CEEG) monitoring in critically ill patients is hampered by the substantial burden of work that it entails for clinical neurophysiologists. Solutions that might reduce this burden, including by shortening the duration of EEG to be recorded, would help its widespread adoption. Our aim was to validate a recently described algorithm of time-dependent electro-clinical risk stratification for electrographic seizure (ESz) (TERSE) based on simple clinical and EEG features.MethodsWe retrospectively reviewed the medical records and EEG recordings of consecutive patients undergoing CEEG between October 1, 2015 and September, 30 2016 and assessed the sensitivity of TERSE for seizure detection, as well as the reduction in EEG time needed to be reviewed.ResultsIn a cohort of 407 patients and compared to full CEEG review, the model allowed the detection of 95% of patients with ESz and 97% of those with electrographic status epilepticus. The amount of CEEG to be recorded to detect ESz was reduced by two-thirds, compared to the duration of CEEG taht was actually recorded.ConclusionsTERSE allowed accurate time-dependent ESz risk stratification with a high sensitivity for ESz detection, which could substantially reduce the amount of CEEG to be recorded and reviewed, if applied prospectively in clinical practice.SignificanceTime-dependent electro-clinical risk stratification, such as TERSE, could allow more efficient practice of CEEG and its more widespread adoption. Future studies should aim to improve risk stratification in the subgroup of patients with acute brain injury and absence of clinical seizures.     

New derivative of 1,2,4-triazole-3-thione (TP427) potentiates the anticonvulsant action of valproate,but not that of carbamazepine,phenytoin or phenobarbital in the mouse tonic-clonic seizure model

Background

To assess the effects of 5-(3-chlorobenzyl)-4-hexyl-2,4-dihydro-3H-1,2,4-triazole-3-thione (TP427) on the protective anticonvulsant action of four classical antiepileptic drugs (carbamazepine, phenobarbital, phenytoin and valproate) in the tonic-clonic seizure model in mice, an isobolographic transformation of data was used.

Maternal reproductive performance and fetal development of the Wistar Audiogenic Rat (WAR) strain

Wistar Audiogenic Rat (WAR) strain is an animal model for epilepsy studies, the chronic multifactorial disease that affects millions of people worldwide. The animals of this strain are genetically predisposed to sound-induced seizures, called audiogenic seizures, and have been used for many years in studies to understand the mechanisms involved in the epilepsies and their neuropsychiatric comorbidities, as well as the screening of potential anti-convulsant agents. Nevertheless, little is known about the reproductive characteristics of these animals. The main goal of this study was to characterize the female reproductive performance and the fetal growth of WARs in comparison to the Wistar rats, obtaining important information for physiology and behavioral studies, as well as for the preservation of the strain. The results indicated few differences between WAR and Wistar regarding the female reproductive performance. There was no significant difference in the number of pregnant females by mating, number of live births per female, number of cells per blastocyst, and several characteristics related to reproductive performance, such as pre- and post-implantation losses. However, significant differences were observed in birth weight and weight gain until weaning, with WAR animals presenting a body weight below Wistar at birth and reduced body weight gain during the lactation period. In addition, the WAR females showed lower body weight on the day 20 of pregnancy and a larger number of corpora lutea, when compared with those of Wistar animals. Thus, we conclude that although Wistar and WAR strains have few differences in their reproductive performance, which might impact future physiological life challenges or others experimentally induced procedures, it still is a very viable strain regarding reproduction.

Abbreviations: CONCEA: National Council for the Control of Animal Experimentation; GEPR: genetically epilepsy-prone rats; WAR: Wistar Audiogenic Rat.     

做作性障碍 —— 一例不明原因的鼻出血的罕见病因

概述:鼻衄或鼻出血是一种常见的疾病,有可能会严重到需要紧急医疗或手术治疗.人为的鼻出血是一种罕见的案例.对患者复杂的行为问题,在大学阶段的培训较少,因此,外科医生常常错过患者一些隐藏的心理问题.在这里,我们给出一例做作性障碍的病例,该案例由于鼻出血而进行手术.经过适当的评估并于耳鼻咽喉科会诊之后,我们采用抗抑郁药物和认知行为治疗成功治愈该患者.