Abstract:
The phenomenon of déjà vu (DV) is of interest, occurring in 97% of healthy individuals, while DV can be a manifestation of a number of pathologies, such as Charles Bonnet syndrome, depression, schizophrenia, or temporal lobe epilepsy. Most cases of DV type epiphenomena are associated with hippocampal sclerosis, while up to 90% of patients with mesial temporal sclerosis are drug resistant. Despite the success of pharmacotherapy, the frequency of «uncontrolled» epilepsy in industrialized countries that adhere to modern standards of treatment is from 30 to 40%, and this percentage is higher among patients with symptomatic and cryptogenic forms than among patients with idiopathic epilepsy (respectively: 40% and 26%). In turn, when studying the DV phenomenon and choosing a therapy strategy, it is necessary to establish its origin, determine its clinical significance (whether it is initially pathological or not), and the need for treatment. During the analysis of exome data, a search was made for substitutions in genes associated with arteriovenous malformations, both with autosomal dominant and autosomal recessive types of inheritance. The genes KRIT1, RASA1, IL6, FAM58A, GLML, EPHB4, CCM2, and ELMO2 were analyzed especially carefully. The analysis of genetic data is of great importance in the aspect of preventing cerebrovascular accidents, at the same time, in order to obtain reliable and significant results, in addition to time and financial costs, examination of relatives is also required. Meanwhile, this fact does not mean that every patient needs to conduct a genetic study. The paper presents detailed instructions for supplementing anamnestic information, as well as the results of personalized instrumental and laboratory diagnostics, which made it possible to carry out timely correction of therapy and achieve a prolonged positive effect.
摘要:
似曾相识(DV)现象引起了人们的兴趣,发生在97%的健康个体中,虽然DV可能是许多病理的表现,比如CharlesBonnet综合征,抑郁症,精神分裂症,或者颞叶癫痫.大多数DV型表观现象与海马硬化有关,而高达90%的内侧颞叶硬化症患者是耐药的。尽管药物治疗取得了成功,在坚持现代治疗标准的工业化国家,“不受控制”癫痫的频率为30%至40%,有症状和隐源性癫痫患者的这一比例高于特发性癫痫患者(分别为40%和26%)。反过来,在研究DV现象和选择治疗策略时,有必要确定它的起源,确定其临床意义(是否最初是病理性的),以及治疗的需要。在分析外显子组数据的过程中,对与动静脉畸形相关的基因进行了替换搜索,具有常染色体显性和常染色体隐性遗传类型。基因KRIT1,RASA1,IL6,FAM58A,GLML,特别仔细地分析了EPHB4、CCM2和ELMO2。对基因数据的分析在预防脑血管意外方面具有重要意义,同时,为了获得可靠和显著的结果,除了时间和财务成本,还需要检查亲戚。同时,这一事实并不意味着每个患者都需要进行基因研究。本文提供了补充记忆记忆信息的详细说明,以及个性化仪器和实验室诊断的结果,这使得及时进行治疗纠正和实现长期的积极效果成为可能。