Personalized Psychiatry and Neurology最新文献_第4页

Interindividual Variability of Anticonvulsant-Induced QT Prolongation Risk 抗惊厥药物诱导QT间期延长风险的个体差异性

Personalized Psychiatry and Neurology Pub Date : 2022-05-15 DOI: 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

{"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}

引用次数: 5

Clinical Case of a 36-Year-Old Man with Treatment-Resistant Paranoid Schizophrenia: Personalized Therapy Selection 36岁男性难治性偏执型精神分裂症临床病例:个性化治疗选择

Personalized Psychiatry and Neurology Pub Date : 2022-05-15 DOI: 10.52667/2712-9179-2022-2-1-89-97

L. P. Linova, A. A. Torgovtsev, O. Limankin, R. Nasyrova

引用次数: 1

Pharmacogenetic Testing of Antipsychotic Transporter Proteins: A Case Report in a 32-Year-Old Woman with Treatment-Resistant Schizophrenia 抗精神病转运蛋白的药物遗传学检测:一名32岁女性治疗难治性精神分裂症病例报告

Personalized Psychiatry and Neurology Pub Date : 2022-05-15 DOI: 10.52667/2712-9179-2022-2-1-98-106

S. M. Osipova, N. S. Shnayder

{"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}

引用次数: 2

From Classical to Personalized Psychoneurology 从古典到个性化的心理神经学

Personalized Psychiatry and Neurology Pub Date : 2022-05-15 DOI: 10.52667/2712-9179-2022-2-1-1-3

N. Neznanov, R. Nasyrova, N. A. Shnayder

引用次数: 3

Clinical and genetic characteristics of juvenile myoclonic epilepsy 青少年肌阵挛性癫痫的临床与遗传特征

Personalized Psychiatry and Neurology Pub Date : 2021-11-14 DOI: 10.52667/2712-9179-2021-1-2-95-105

O. Shilkina, S. Zobova, E. А. Domoratskaya, D. Dmitrenko

{"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}

引用次数: 1

Personalized psychiatry: achievements and prospects 个性化精神病学:成就与前景

Personalized Psychiatry and Neurology Pub Date : 2021-11-14 DOI: 10.52667/2712-9179-2021-1-2-126-127

O. Limankin

引用次数: 0

Prospects for studying the pharmacokinetics, pharmacodynamics and pharmacogenetics of vitamin C in patients with neurological diseases and mental disorders 神经系统疾病和精神障碍患者维生素C的药代动力学、药效学和药物遗传学研究前景

Personalized Psychiatry and Neurology Pub Date : 2021-11-14 DOI: 10.52667/2712-9179-2021-1-2-63-82

P. Goncharova, T. Davydova, N. Zhukova

{"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}

引用次数: 0

Prevalence of non-motor disorders in Parkinson`s disease 帕金森病非运动障碍的患病率

Personalized Psychiatry and Neurology Pub Date : 2021-11-14 DOI: 10.52667/2712-9179-2021-1-2-117-125

N. Y. Safonova, M. R. Sapronova, O. Gavrilyuk, T. Popova, A. Tappakhov

引用次数: 0

Juvenile myoclonic epilepsy: current state of the problem 青少年肌阵挛性癫痫:问题的现状

Personalized Psychiatry and Neurology Pub Date : 2021-11-14 DOI: 10.52667/2712-9179-2021-1-2-2-20

N. Shnayder, K. V. Petrov

{"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}

引用次数: 1

Association of alcohol withdrawal severity with MTNR1A (rs34532313) and MTNR1B (rs10830963) genes polymorphisms 酒精戒断严重程度与MTNR1A (rs34532313)和MTNR1B (rs10830963)基因多态性的关系

Personalized Psychiatry and Neurology Pub Date : 2021-11-14 DOI: 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

{"title":"Association of alcohol withdrawal severity with MTNR1A (rs34532313) and MTNR1B (rs10830963) genes polymorphisms","authors":"I. S. Efremov, D. Tukhvatullina, U. S. Efremova, V. R. Gashkarimov, N. R. Tulbaeva, E. Akhmetova, T. R. Gizatullin","doi":"10.52667/2712-9179-2021-1-2-111-116","DOIUrl":"https://doi.org/10.52667/2712-9179-2021-1-2-111-116","url":null,"abstract":"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. ","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"47 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":"133233631","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}

引用次数: 2