Pub Date : 2022-05-15DOI: 10.52667/2712-9179-2022-2-1-23-45
N. M. Zhuravlev, N. Shnayder, E. Vaiman, A. Abdyrakhmanova, -. MarinaM.Pe, trova, E. Bochanova, Irina V. Romanova, Oksana A. Gavrilyuk, N. Lareva, R. Nasyrova
In connection with the widespread use of anticonvulsants (antiepileptic drugs – AEDs) in psychiatric and neurological practice and the need for their long-term use to treat a wide range of mental disorders and neurological diseases, the question of their safety profile, including the assessment of the risk of developing life-threatening conditions and adverse reactions (ADRs), becomes relevant. In this regard, from the position of personalized medicine, it is critical to develop an interdisciplinary approach with the participation of doctors of various specialties and a new strategy of a personalized approach to predicting AED-induced prolongation of the QT interval as one of the most prognostically unfavorable cardiological ADRs (including sudden death syndrome – SDS). We searched for full-text publications for the period from 2011 to 2021 databases using the following keywords and its combination. We have found and systematized monogenic and multifactorial forms of long QT syndrome (LQTS) and candidate genes that slow down AEDs metabolism in the liver. Identification of risk alleles of single nucleotide variants (SNVs) of the candidate genes predisposing to the development of AED-induced LQTS and SDS will make it possible to adjust the choice and dosage of these drugs and prevent the development of ADRs, which will improve the quality of life of patients and prevent SDS in the patients with psychiatric and neurological disorders.
{"title":"Interindividual Variability of Anticonvulsant-Induced QT Prolongation Risk","authors":"N. M. Zhuravlev, N. Shnayder, E. Vaiman, A. Abdyrakhmanova, -. MarinaM.Pe, trova, E. Bochanova, Irina V. Romanova, Oksana A. Gavrilyuk, N. Lareva, R. Nasyrova","doi":"10.52667/2712-9179-2022-2-1-23-45","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-1-23-45","url":null,"abstract":"In connection with the widespread use of anticonvulsants (antiepileptic drugs – AEDs) in psychiatric and neurological practice and the need for their long-term use to treat a wide range of mental disorders and neurological diseases, the question of their safety profile, including the assessment of the risk of developing life-threatening conditions and adverse reactions (ADRs), becomes relevant. In this regard, from the position of personalized medicine, it is critical to develop an interdisciplinary approach with the participation of doctors of various specialties and a new strategy of a personalized approach to predicting AED-induced prolongation of the QT interval as one of the most prognostically unfavorable cardiological ADRs (including sudden death syndrome – SDS). We searched for full-text publications for the period from 2011 to 2021 databases using the following keywords and its combination. We have found and systematized monogenic and multifactorial forms of long QT syndrome (LQTS) and candidate genes that slow down AEDs metabolism in the liver. Identification of risk alleles of single nucleotide variants (SNVs) of the candidate genes predisposing to the development of AED-induced LQTS and SDS will make it possible to adjust the choice and dosage of these drugs and prevent the development of ADRs, which will improve the quality of life of patients and prevent SDS in the patients with psychiatric and neurological disorders.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"164 5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127530495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-05-15DOI: 10.52667/2712-9179-2022-2-1-89-97
L. P. Linova, A. A. Torgovtsev, O. Limankin, R. Nasyrova
Schizophrenia is a common and socially significant mental disorder that requires longterm use of antipsychotics (APs). Long-term use of APs increases the risk of developing adverse drug reactions (ADRs) and/or therapeutic resistance in some patients. This may be due to a genetically determined impairment of APs metabolism by cytochrome P450 enzymes and of Aps transport across the blood-brain barrier (BBB) and the cell membrane of APs target neurons in the brain. Pharmacogenetic testing (PGx) is a method to identify a group of patients with a high risk of developing AP-induced ADRs. The aim of the case report is to present the experience of using PGx in a 36-year-old patient with treatment-resistant schizophrenia and a medical history of AP-induced ADRs.
{"title":"Clinical Case of a 36-Year-Old Man with Treatment-Resistant Paranoid Schizophrenia: Personalized Therapy Selection","authors":"L. P. Linova, A. A. Torgovtsev, O. Limankin, R. Nasyrova","doi":"10.52667/2712-9179-2022-2-1-89-97","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-1-89-97","url":null,"abstract":"Schizophrenia is a common and socially significant mental disorder that requires longterm use of antipsychotics (APs). Long-term use of APs increases the risk of developing adverse drug reactions (ADRs) and/or therapeutic resistance in some patients. This may be due to a genetically determined impairment of APs metabolism by cytochrome P450 enzymes and of Aps transport across the blood-brain barrier (BBB) and the cell membrane of APs target neurons in the brain. Pharmacogenetic testing (PGx) is a method to identify a group of patients with a high risk of developing AP-induced ADRs. The aim of the case report is to present the experience of using PGx in a 36-year-old patient with treatment-resistant schizophrenia and a medical history of AP-induced ADRs.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"51 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114708503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-05-15DOI: 10.52667/2712-9179-2022-2-1-98-106
S. M. Osipova, N. S. Shnayder
Schizophrenia is a common and socially significant mental disorder requiring long-term use of antipsychotics (APs). Long-term use of APs increases the risk of developing adverse drug reactions (ADRs) and / or treatment resistance in some patients. This may be due to a genetically determined impairment of APs transport across the blood-brain barrier (BBB) and the membrane of APs target neurons in the brain. Pharmacogenetic testing (PGx) is a method to identify a group of patients with a high risk of developing AP-induced ADRs. Foreign panels for PGx do not include non-functional variants of genes encoding APs transporter proteins. However, our experience ofusing PGx to search for low-functional and non-functional single-nucleotide variants (SNVs)/polymorphisms of three genes (ABCB1, ABCG2, ABCC1) encoding APs transporter proteins demonstrates the importance of this new personalized approach to the choice of APs and its dosing in patients with a slow transporter PGx profile. The main purpose of the work is to present the experience of using pharmaco-genetic testing (PGx) in a 32-year-old patient with treatment-resistant schizophrenia and a medical history of AP-induced ADRs.
{"title":"Pharmacogenetic Testing of Antipsychotic Transporter Proteins: A Case Report in a 32-Year-Old Woman with Treatment-Resistant Schizophrenia","authors":"S. M. Osipova, N. S. Shnayder","doi":"10.52667/2712-9179-2022-2-1-98-106","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-1-98-106","url":null,"abstract":"Schizophrenia is a common and socially significant mental disorder requiring long-term use of antipsychotics (APs). Long-term use of APs increases the risk of developing adverse drug reactions (ADRs) and / or treatment resistance in some patients. This may be due to a genetically determined impairment of APs transport across the blood-brain barrier (BBB) and the membrane of APs target neurons in the brain. Pharmacogenetic testing (PGx) is a method to identify a group of patients with a high risk of developing AP-induced ADRs. Foreign panels for PGx do not include non-functional variants of genes encoding APs transporter proteins. However, our experience ofusing PGx to search for low-functional and non-functional single-nucleotide variants (SNVs)/polymorphisms of three genes (ABCB1, ABCG2, ABCC1) encoding APs transporter proteins demonstrates the importance of this new personalized approach to the choice of APs and its dosing in patients with a slow transporter PGx profile. The main purpose of the work is to present the experience of using pharmaco-genetic testing (PGx) in a 32-year-old patient with treatment-resistant schizophrenia and a medical history of AP-induced ADRs.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129069580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-05-15DOI: 10.52667/2712-9179-2022-2-1-1-3
N. Neznanov, R. Nasyrova, N. A. Shnayder
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{"title":"From Classical to Personalized Psychoneurology","authors":"N. Neznanov, R. Nasyrova, N. A. Shnayder","doi":"10.52667/2712-9179-2022-2-1-1-3","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-1-1-3","url":null,"abstract":"<jats:p>.</jats:p>","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116808689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-11-14DOI: 10.52667/2712-9179-2021-1-2-95-105
O. Shilkina, S. Zobova, E. А. Domoratskaya, D. Dmitrenko
Juvenile myoclonic epilepsy (JME) is reported as a clinically and genetically heterogeneous disease with a high risk of inheritance. The aim of the study was to establish phenotype features and genetic risk factors for juvenile myoclonic epilepsy to advance existing approaches of prevention, treatment, and observation of patients with JME. Methods: anamnestic; clinical; neurophysiological (EEG); neuroradiological (MRI), neuropsychological; laboratory (DNA-diagnostics). JME starts with absences more frequently in females as compared to males (32.0% vs. 15.4%), and with GTCS and myoclonic in males as compared to females (46.2% and 36.5% vs. 36.0% and 31.2%, respectively). The 1st phenotype of JME was more frequently encountered in male individuals in comparison with female ones (55.8% vs. 34.7%), and the 2nd phenotype was more frequently encountered in female individuals in comparison with male ones (16.9% vs. 5.8%). Homozygous carriage of the T allele of the GJD2 gene (rs3743123) was associated with the development of JME in the study population, OR = 2.66 (95% CI 1.24 to 5.74). 41.5% of patients with JME have a slow metabolizer pharmacogenetic status, which is a risk factor for pseudo-pharmacoresistance and the development of adverse drug reactions.
青少年肌阵挛性癫痫(JME)被报道为一种具有高遗传风险的临床和遗传异质性疾病。本研究的目的是建立青少年肌阵挛性癫痫的表型特征和遗传危险因素，以推进现有的预防、治疗和观察JME患者的方法。方法:记忆的;临床;神经生理学(EEG);神经放射学(MRI)、神经心理学;实验室(DNA-diagnostics)。与男性相比，JME在女性中更频繁出现缺乏症(32.0%比15.4%)，而在男性中，GTCS和肌阵挛在女性中更频繁出现(分别为46.2%和36.5%比36.0%和31.2%)。JME的第一种表型在男性个体中出现的频率高于女性个体(55.8%比34.7%)，第二种表型在女性个体中出现的频率高于男性个体(16.9%比5.8%)。GJD2基因T等位基因(rs3743123)的纯合子携带与研究人群中JME的发生相关，OR = 2.66 (95% CI 1.24 ~ 5.74)。41.5%的JME患者具有慢代谢药物遗传状态，这是假性耐药和发生药物不良反应的危险因素。
{"title":"Clinical and genetic characteristics of juvenile myoclonic epilepsy","authors":"O. Shilkina, S. Zobova, E. А. Domoratskaya, D. Dmitrenko","doi":"10.52667/2712-9179-2021-1-2-95-105","DOIUrl":"https://doi.org/10.52667/2712-9179-2021-1-2-95-105","url":null,"abstract":"Juvenile myoclonic epilepsy (JME) is reported as a clinically and genetically heterogeneous disease with a high risk of inheritance. The aim of the study was to establish phenotype features and genetic risk factors for juvenile myoclonic epilepsy to advance existing approaches of prevention, treatment, and observation of patients with JME. Methods: anamnestic; clinical; neurophysiological (EEG); neuroradiological (MRI), neuropsychological; laboratory (DNA-diagnostics). JME starts with absences more frequently in females as compared to males (32.0% vs. 15.4%), and with GTCS and myoclonic in males as compared to females (46.2% and 36.5% vs. 36.0% and 31.2%, respectively). The 1st phenotype of JME was more frequently encountered in male individuals in comparison with female ones (55.8% vs. 34.7%), and the 2nd phenotype was more frequently encountered in female individuals in comparison with male ones (16.9% vs. 5.8%). Homozygous carriage of the T allele of the GJD2 gene (rs3743123) was associated with the development of JME in the study population, OR = 2.66 (95% CI 1.24 to 5.74). 41.5% of patients with JME have a slow metabolizer pharmacogenetic status, which is a risk factor for pseudo-pharmacoresistance and the development of adverse drug reactions.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126916213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-11-14DOI: 10.52667/2712-9179-2021-1-2-63-82
P. Goncharova, T. Davydova, N. Zhukova
Ascorbic acid (vitamin C) is a vital nutrient that belongs to the group of antioxidants. Vitamin C plays an important role in the functioning of the central (CNS) and peripheral nervous system (PNS), including maturation and differentiation of neurons, formation of myelin, synthesis of catecholamines, modulation of neurotransmission and antioxidant protection. Neurological diseases and mental disorders are characterized by increased generation of free radicals. At the same time, the highest concentrations of vitamin C are found in the brain and neuroendocrine tissues. It is believed that vitamin C can affect the age of debut and the course of many neurological diseases and mental disorders. However, its potential therapeutic role continues to be studied. The efficacy and safety of vitamin C is likely influenced by the pharmacogenetic profile of the patient, including the carriage of single-nucleotide variants (SNVS), candidate genes associated with vitamin C metabolism in the human body in normal and neuropsychic disorders. The purpose of this thematic review is to update current knowledge about the role of vitamin C pharmacogenetics in the efficacy and safety of its use in neurological diseases (amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Huntington's disease, Alzheimer's disease, etc.) and mental disorders (depression, anxiety, schizophrenia, etc.). Special attention is paid to the possibility of translating the results of pharmacogenetic studies into real clinical practice in neurology and psychiatry.
{"title":"Prospects for studying the pharmacokinetics, pharmacodynamics and pharmacogenetics of vitamin C in patients with neurological diseases and mental disorders","authors":"P. Goncharova, T. Davydova, N. Zhukova","doi":"10.52667/2712-9179-2021-1-2-63-82","DOIUrl":"https://doi.org/10.52667/2712-9179-2021-1-2-63-82","url":null,"abstract":"Ascorbic acid (vitamin C) is a vital nutrient that belongs to the group of antioxidants. Vitamin C plays an important role in the functioning of the central (CNS) and peripheral nervous system (PNS), including maturation and differentiation of neurons, formation of myelin, synthesis of catecholamines, modulation of neurotransmission and antioxidant protection. Neurological diseases and mental disorders are characterized by increased generation of free radicals. At the same time, the highest concentrations of vitamin C are found in the brain and neuroendocrine tissues. It is believed that vitamin C can affect the age of debut and the course of many neurological diseases and mental disorders. However, its potential therapeutic role continues to be studied. The efficacy and safety of vitamin C is likely influenced by the pharmacogenetic profile of the patient, including the carriage of single-nucleotide variants (SNVS), candidate genes associated with vitamin C metabolism in the human body in normal and neuropsychic disorders. The purpose of this thematic review is to update current knowledge about the role of vitamin C pharmacogenetics in the efficacy and safety of its use in neurological diseases (amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Huntington's disease, Alzheimer's disease, etc.) and mental disorders (depression, anxiety, schizophrenia, etc.). Special attention is paid to the possibility of translating the results of pharmacogenetic studies into real clinical practice in neurology and psychiatry.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"158 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133464302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-11-14DOI: 10.52667/2712-9179-2021-1-2-117-125
N. Y. Safonova, M. R. Sapronova, O. Gavrilyuk, T. Popova, A. Tappakhov
(1) Background: to reveal the prevalence of non-motor disorders in Parkinson’s disease (PD), we analyzed both Russian and international studies on the issue of PD-associated non-motor disorders in Caucasian patients; (2) Methods: We have carried out a search for full-text Englishand Russian-language articles published during the last ten years (from 2010 to 2020) in PubMed, Scopus, Web of Science, Springer, Clinical case, and E-library databases using multiple versions of keywords and their combinations. (3) Results: General prevalence of PD-associated non-motor disorders proved to be high. At the same time, we did not find significant differences between the prevalence of cognitive, affective, or behavioral disorders in PD patients. However, depression was found to be more common in PD patients in the Russian Federation; (4) Conclusions: According to the results of our review, cognitive and affective disorders in PD represent the issues of major concern.
(1)背景:为了揭示帕金森病(PD)非运动障碍的患病率，我们分析了俄罗斯和国际上关于白种人PD相关非运动障碍问题的研究;(2)方法:使用多个版本的关键词及其组合，对PubMed、Scopus、Web of Science、Springer、Clinical case和E-library数据库中近十年(2010 - 2020年)发表的英文和俄文全文文章进行检索。(3)结果:pd相关非运动障碍的普遍患病率较高。同时，我们没有发现PD患者中认知、情感或行为障碍的患病率有显著差异。然而，抑郁症在俄罗斯联邦PD患者中更为常见;(4)结论:根据我们的综述结果，PD的认知和情感障碍代表了主要关注的问题。
{"title":"Prevalence of non-motor disorders in Parkinson`s disease","authors":"N. Y. Safonova, M. R. Sapronova, O. Gavrilyuk, T. Popova, A. Tappakhov","doi":"10.52667/2712-9179-2021-1-2-117-125","DOIUrl":"https://doi.org/10.52667/2712-9179-2021-1-2-117-125","url":null,"abstract":"(1) Background: to reveal the prevalence of non-motor disorders in Parkinson’s disease (PD), we analyzed both Russian and international studies on the issue of PD-associated non-motor disorders in Caucasian patients; (2) Methods: We have carried out a search for full-text Englishand Russian-language articles published during the last ten years (from 2010 to 2020) in PubMed, Scopus, Web of Science, Springer, Clinical case, and E-library databases using multiple versions of keywords and their combinations. (3) Results: General prevalence of PD-associated non-motor disorders proved to be high. At the same time, we did not find significant differences between the prevalence of cognitive, affective, or behavioral disorders in PD patients. However, depression was found to be more common in PD patients in the Russian Federation; (4) Conclusions: According to the results of our review, cognitive and affective disorders in PD represent the issues of major concern. ","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131874464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-11-14DOI: 10.52667/2712-9179-2021-1-2-2-20
N. Shnayder, K. V. Petrov
Due to the high prevalence of the disease, its genetic and clinical heterogeneity, the need for lifelong therapy and the emergence of new views on the pathogenesis and course of JME, it is necessary to provide primary care physicians (general practitioners, district therapists, neurologists) with up-to-date systematized information about the most common form of genetic generalized epilepsy (Herpin-Janz syndrome). JME is a genetically determined disease of the brain, accompanied by a triad of seizures (absences, myoclonia, generalized tonic-clonic seizures), and developing mainly in adolescence and young age. In recent years, monogenic and multifactorial forms of JME have been identified, but questions about the genetics of JME are far from being resolved. JME is characterized by the preservation of intelligence, life expectancy with adequate therapy does not differ from the average population, but the frequency of failures of pharmaco-induced remission is high when taking anticonvulsants is canceled. This explains the need for lifelong pharmacotherapy, individual selection of anticonvulsants. About 30% of patients with JME have non-psychotic mental disorders, disorders of the sleep and wake cycle, which in turn leads to an aggravation of epileptic seizures mainly in the first half of the day. This review presents an analysis of full-text publications in Russian and English over the past five years in the databases eLibrary, PubMed, Web of Science, OxfordPress, Springer, and Clinicalkeys. In addition, the review includes earlier publications of historical significance.
由于该病的高患病率，其遗传和临床异质性，终身治疗的需要以及对JME发病机制和病程的新观点的出现，有必要向初级保健医生(全科医生，地区治疗师，神经科医生)提供有关最常见的遗传性全身性癫痫(Herpin-Janz综合征)的最新系统信息。JME是一种由基因决定的脑部疾病，伴有三种癫痫发作(缺失、肌阵挛、全身性强直-阵挛发作)，主要发生在青少年和青少年时期。近年来，已经发现了JME的单基因和多因子形式，但关于JME的遗传学问题还远远没有解决。JME的特点是保留智力，适当治疗的预期寿命与平均人群没有差异，但当取消服用抗惊厥药物时，药物诱导缓解失败的频率很高。这解释了需要终身药物治疗，个体选择抗惊厥药。约30%的JME患者有非精神病性精神障碍，睡眠和觉醒周期障碍，这反过来又导致癫痫发作加重，主要在一天的前半部分。这篇综述分析了过去五年在图书馆、PubMed、Web of Science、牛津出版社、Springer和Clinicalkeys数据库中发表的俄文和英文全文出版物。此外，该评论还包括具有历史意义的早期出版物。
{"title":"Juvenile myoclonic epilepsy: current state of the problem","authors":"N. Shnayder, K. V. Petrov","doi":"10.52667/2712-9179-2021-1-2-2-20","DOIUrl":"https://doi.org/10.52667/2712-9179-2021-1-2-2-20","url":null,"abstract":"Due to the high prevalence of the disease, its genetic and clinical heterogeneity, the need for lifelong therapy and the emergence of new views on the pathogenesis and course of JME, it is necessary to provide primary care physicians (general practitioners, district therapists, neurologists) with up-to-date systematized information about the most common form of genetic generalized epilepsy (Herpin-Janz syndrome). JME is a genetically determined disease of the brain, accompanied by a triad of seizures (absences, myoclonia, generalized tonic-clonic seizures), and developing mainly in adolescence and young age. In recent years, monogenic and multifactorial forms of JME have been identified, but questions about the genetics of JME are far from being resolved. JME is characterized by the preservation of intelligence, life expectancy with adequate therapy does not differ from the average population, but the frequency of failures of pharmaco-induced remission is high when taking anticonvulsants is canceled. This explains the need for lifelong pharmacotherapy, individual selection of anticonvulsants. About 30% of patients with JME have non-psychotic mental disorders, disorders of the sleep and wake cycle, which in turn leads to an aggravation of epileptic seizures mainly in the first half of the day. This review presents an analysis of full-text publications in Russian and English over the past five years in the databases eLibrary, PubMed, Web of Science, OxfordPress, Springer, and Clinicalkeys. In addition, the review includes earlier publications of historical significance.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128010320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-11-14DOI: 10.52667/2712-9179-2021-1-2-111-116
I. S. Efremov, D. Tukhvatullina, U. S. Efremova, V. R. Gashkarimov, N. R. Tulbaeva, E. Akhmetova, T. R. Gizatullin
Alcohol withdrawal is the most threatening condition encountered in patients with alcohol use disorder. Our study aimed to investigate the association of alcohol withdrawal severity with polymorphic variants in melatonin receptor genes. Methods. The clinical study was carried out on the basis of the Republican Narcological Dispensary №1 in Ufa and the Republican Narcological Dispensary №2 in Sterlitamak. Genetic analysis was performed at the Department of Personalised Psychiatry and Neurology at the V.M. Bekhterev Research Centre, Saint Petersburg. The final sample consisted of 307 subjects. Results. Carriers of the TT genotype of the MTNR1A gene (rs34532313) were found to have less hypertension during alcohol withdrawal than carriers of the other genotypes. In comparison, carriers of the GG genotype of the MTNR1B gene (rs10830963) experienced more symptoms than other genotypes: paroxysmal sweating, visual hallucinations, anxiety, and overall CIWA-Ar score. Conclusions. Thus, it can be concluded that the TT genotype of MTNR1A gene (rs34532313) is associated with a lower risk of hypertension during alcohol withdrawal compared to carriers of other gene genotypes. The GG genotype of MTNR1B gene (rs10830963) is associated with severe withdrawal. In general, it can be concluded that melatonin receptors are involved in the pathogenesis of alcohol withdrawal and the severe of some of its symptoms.
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