Pub Date : 2024-03-25DOI: 10.52667/10.52667/2712-9179-2024-4-1-2-17-9179-2024-4-1-32-40
Y. V. Kotsiubinskaya, V. V. Vasilev, A. V. Kazakov, I. K. Stulov, V. A. Mikhailov
This article presents a clinical case of Alzheimer’s disease with a debut as primary progressive aphasia syndrome. Insufficient use of routine magnetic resonance imaging in this case in the diagnosis of neurodegenerative diseases and the advantage of such additional neuroimaging methods as positron emission tomography, functional magnetic resonance imaging with a scale assessment of atrophic changes. Additional neuroimaging techniques have been shown to significantly improve the early detection of pathological changes in brain structures and to reveal the location of functional areas involved in the neurodegenerative process.
{"title":"Atypical Structure of Broca's Area in a Patient with Primary Progressive Atrophy Syndrome at the Onset of Alzheimer's Disease","authors":"Y. V. Kotsiubinskaya, V. V. Vasilev, A. V. Kazakov, I. K. Stulov, V. A. Mikhailov","doi":"10.52667/10.52667/2712-9179-2024-4-1-2-17-9179-2024-4-1-32-40","DOIUrl":"https://doi.org/10.52667/10.52667/2712-9179-2024-4-1-2-17-9179-2024-4-1-32-40","url":null,"abstract":"This article presents a clinical case of Alzheimer’s disease with a debut as primary progressive aphasia syndrome. Insufficient use of routine magnetic resonance imaging in this case in the diagnosis of neurodegenerative diseases and the advantage of such additional neuroimaging methods as positron emission tomography, functional magnetic resonance imaging with a scale assessment of atrophic changes. Additional neuroimaging techniques have been shown to significantly improve the early detection of pathological changes in brain structures and to reveal the location of functional areas involved in the neurodegenerative process.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":" 47","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140385169","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 : 2024-03-25DOI: 10.52667/10.52667/2712-9179-2024-4-1-2-17
M. A. Kaidan, N. V. Zakharova
Catatonia is a common syndrome among psychiatric patients, diagnosed in 20-43% of cases. Treatment methods for patients with catatonia are limited to the use of benzodiazepines and ECT in the acute period, and the problem of anti-relapse and maintenance therapy remains one of the most difficult. Currently, transcranial magnetic stimulation is a promising approach in the treatment of catatonia. The purpose of the study was to evaluate the possibility of using the method of transcranial magnetic stimulation of the brain in patients with schizophrenia in remission with residual catatonic symptoms. Material and methods. 50 patients diagnosed with schizophrenia and residual catatonic symptoms were examined by clinical and psychometric methods and divided into 2 groups (therapeutic and comparison groups) to prospectively evaluate the effectiveness of transcranial magnetic stimulation for 4 weeks. Results. Transcranial magnetic stimulation of the DLPFC on the left in patients with residual catatonia TMS turned out to be effective and safe a tendency was revealed to reduce psychomotor impairments that made up the clinical picture before the start of stimulation, along with an improvement in basic cognitive functions. Conclusions. Augmentation of standard psychopharmacotherapy protocols with TMS is effective for the correction of psychomotor symptoms.
{"title":"Application of Transcranial Magnetic Stimulation for the Treatment of Residual Catatonia","authors":"M. A. Kaidan, N. V. Zakharova","doi":"10.52667/10.52667/2712-9179-2024-4-1-2-17","DOIUrl":"https://doi.org/10.52667/10.52667/2712-9179-2024-4-1-2-17","url":null,"abstract":"Catatonia is a common syndrome among psychiatric patients, diagnosed in 20-43% of cases. Treatment methods for patients with catatonia are limited to the use of benzodiazepines and ECT in the acute period, and the problem of anti-relapse and maintenance therapy remains one of the most difficult. Currently, transcranial magnetic stimulation is a promising approach in the treatment of catatonia. The purpose of the study was to evaluate the possibility of using the method of transcranial magnetic stimulation of the brain in patients with schizophrenia in remission with residual catatonic symptoms. Material and methods. 50 patients diagnosed with schizophrenia and residual catatonic symptoms were examined by clinical and psychometric methods and divided into 2 groups (therapeutic and comparison groups) to prospectively evaluate the effectiveness of transcranial magnetic stimulation for 4 weeks. Results. Transcranial magnetic stimulation of the DLPFC on the left in patients with residual catatonia TMS turned out to be effective and safe a tendency was revealed to reduce psychomotor impairments that made up the clinical picture before the start of stimulation, along with an improvement in basic cognitive functions. Conclusions. Augmentation of standard psychopharmacotherapy protocols with TMS is effective for the correction of psychomotor symptoms.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":" 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140384030","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 : 2024-03-25DOI: 10.52667/10.52667/2712-9179-2024-4-1-18-25
E. A. Bochanova, S. D. Gusev
The problem of the safety of antiepileptic therapy due to the duration of treatment and the need for regular intake of antiepileptic drugs (AEDs) is extremely significant. Adverse reactions (ADRs) may outweigh any positive effect of therapy associated with seizure reduction. The purpose of the study: to analyze the frequency and structure of ADRs of AEDs. Materials and Methods: The work was carried out within the framework of comprehensive research on the topic No. 210-16 "Epidemiological, genetic and neurophysiological aspects of diseases of the nervous system (central, peripheral and vegetative) and preventive medicine" (registration number 0120.0807480). Results: The frequency of ADRs against the background of third-generation AEDs was not inferior to that against the background of receiving second-generation AEDs, while the structure of ADRs was different: third-generation AEDs had a higher incidence of ADRs from the central nervous system, including a worsening of the course of epilepsy. The ratio of the chances of valproic acid accumulation with the achievement of toxic concentration in the blood and the development of un-desirable side effects in poor metabolizers (carriers of the polymorphism of CYP2C9*2 or CYP2C9*3) the gene encoding the cytochrome P450 isoenzyme 2C9 of the liver is 5.94 and 4.27, respectively. Conclusion: A personalized approach to ensuring the safety of valproic acid preparations based on taking into account the carriage of polymorphisms of the CYP2C9 gene allows to reduce the incidence of ADRs in patients receiving valproic acid preparations from 59.28% to 10.78%. The introduction of a personalized approach to the administration of valproates to patients suffering from epilepsy in the Krasnoyarsk Territory did not lead to an increase in direct costs.
{"title":"The Frequency and Structure of Adverse Drug Reactions in the Pharmacotherapy of Epilepsy","authors":"E. A. Bochanova, S. D. Gusev","doi":"10.52667/10.52667/2712-9179-2024-4-1-18-25","DOIUrl":"https://doi.org/10.52667/10.52667/2712-9179-2024-4-1-18-25","url":null,"abstract":"The problem of the safety of antiepileptic therapy due to the duration of treatment and the need for regular intake of antiepileptic drugs (AEDs) is extremely significant. Adverse reactions (ADRs) may outweigh any positive effect of therapy associated with seizure reduction. The purpose of the study: to analyze the frequency and structure of ADRs of AEDs. Materials and Methods: The work was carried out within the framework of comprehensive research on the topic No. 210-16 \"Epidemiological, genetic and neurophysiological aspects of diseases of the nervous system (central, peripheral and vegetative) and preventive medicine\" (registration number 0120.0807480). Results: The frequency of ADRs against the background of third-generation AEDs was not inferior to that against the background of receiving second-generation AEDs, while the structure of ADRs was different: third-generation AEDs had a higher incidence of ADRs from the central nervous system, including a worsening of the course of epilepsy. The ratio of the chances of valproic acid accumulation with the achievement of toxic concentration in the blood and the development of un-desirable side effects in poor metabolizers (carriers of the polymorphism of CYP2C9*2 or CYP2C9*3) the gene encoding the cytochrome P450 isoenzyme 2C9 of the liver is 5.94 and 4.27, respectively. Conclusion: A personalized approach to ensuring the safety of valproic acid preparations based on taking into account the carriage of polymorphisms of the CYP2C9 gene allows to reduce the incidence of ADRs in patients receiving valproic acid preparations from 59.28% to 10.78%. The introduction of a personalized approach to the administration of valproates to patients suffering from epilepsy in the Krasnoyarsk Territory did not lead to an increase in direct costs.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":" 652","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140382997","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 : 2024-03-25DOI: 10.52667/10.52667/2712-9179-2024-4-1-40-49
A. Y. Avilov, A. V. Kidyaeva, E. Vaiman
Pharmacogenetic testing (PGx) is an important diagnostic tool for achieving an optimal balance between the effectiveness and safety of psychotropic drugs, especially those requiring long-term use. The most prescribed medications in psychiatric practice are antipsychotics (APs). Despite the long period of use of APs, their safety profile remains insufficiently high. Due to the high incidence of adverse drug reactions (ADRs), from the central nervous system (CNS) and other organs and tissues of the human body. Therapeutic drug monitoring can help predict and diagnose AP-induced ADRs only if the patient is receiving APs. PGx helps to individually select an AP, its dose and clarify the risk of ADRs before prescribing an AP, or at the start of therapy. This explains the importance of PGx in psychiatrist practice. However, to date, most practicing psychiatrists rarely use predictive PGx or do not use this method. PGx is more often prescribed in the case of a long history of un-successful AP-therapy, or in the case of the development of serious ADRs, the risk of which could be significantly reduced if predictive PGx was used. This case report of PGx in a 56-year-old woman with severe bipolar disorder demonstrates that the trajectory of ADRs and socialization could be significantly improved if this method was prescribed before the initiation of APs, rather than in the event of the development of serious ADRs.
药物基因学检测（PGx）是一种重要的诊断工具，可在精神药物（尤其是需要长期使用的药物）的有效性和安全性之间实现最佳平衡。精神科处方最多的药物是抗精神病药物（APs）。尽管抗精神病药物的使用时间很长，但其安全性仍然不够高。由于药物不良反应（ADRs）的发生率很高，这些不良反应来自中枢神经系统（CNS）以及人体的其他器官和组织。只有当患者正在接受 APs 治疗时，治疗药物监测才能帮助预测和诊断 AP 引起的 ADR。PGx 有助于在处方 AP 之前或开始治疗时单独选择 AP 及其剂量，并明确 ADR 的风险。这说明了 PGx 在精神科医生实践中的重要性。然而，迄今为止，大多数执业精神科医生很少使用预测性 PGx 或不使用这种方法。PGx 通常是在 AP 治疗长期不成功或出现严重 ADR 的情况下开出的处方，而如果使用预测性 PGx，则可大大降低出现 ADR 的风险。本病例报告对一名 56 岁的严重躁郁症女性患者进行了 PGx 治疗，结果表明，如果在开始 APs 治疗之前就使用这种方法，而不是在出现严重 ADRs 的情况下才使用，那么 ADRs 和社会化的发展轨迹将得到显著改善。
{"title":"Predictive Pharmacogenetic Testing in Psychiatry: Pros and Cons","authors":"A. Y. Avilov, A. V. Kidyaeva, E. Vaiman","doi":"10.52667/10.52667/2712-9179-2024-4-1-40-49","DOIUrl":"https://doi.org/10.52667/10.52667/2712-9179-2024-4-1-40-49","url":null,"abstract":"Pharmacogenetic testing (PGx) is an important diagnostic tool for achieving an optimal balance between the effectiveness and safety of psychotropic drugs, especially those requiring long-term use. The most prescribed medications in psychiatric practice are antipsychotics (APs). Despite the long period of use of APs, their safety profile remains insufficiently high. Due to the high incidence of adverse drug reactions (ADRs), from the central nervous system (CNS) and other organs and tissues of the human body. Therapeutic drug monitoring can help predict and diagnose AP-induced ADRs only if the patient is receiving APs. PGx helps to individually select an AP, its dose and clarify the risk of ADRs before prescribing an AP, or at the start of therapy. This explains the importance of PGx in psychiatrist practice. However, to date, most practicing psychiatrists rarely use predictive PGx or do not use this method. PGx is more often prescribed in the case of a long history of un-successful AP-therapy, or in the case of the development of serious ADRs, the risk of which could be significantly reduced if predictive PGx was used. This case report of PGx in a 56-year-old woman with severe bipolar disorder demonstrates that the trajectory of ADRs and socialization could be significantly improved if this method was prescribed before the initiation of APs, rather than in the event of the development of serious ADRs.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"113 30","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140381330","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 : 2024-03-25DOI: 10.52667/10.52667/2712-9179-2024-4-1-26-31
E. Y. Bardina, U. S. Efremova, A. M. Baikova3, D. V. Bobrik, R. S. Achuvakov, V. L. Akhmetova, I. S. Efremov
Suicide is a serious public health problem. A deeper understanding of the underlying mechanisms and processes that lead to suicidal behavior is crucial for the development of effective preventive strategies. The study and identification of biomarkers will help in understanding the underlying processes or changes associated with suicide, however, studies linking biomarkers to suicide are limited and fragmented. Objective- To study the genetic associations of the polymorphic variant of the DRD2 gene (rs1800497) with forms of suicidal behavior in patients with alcohol dependence. Materials and methods: The association of polymorphic variants of the gene DRD2 (rs1800497) was analysed in patients with alcohol dependence syndrome, with a history of suicidal behavior and without it, living in the Republic of Bashkortostan, who were treated at the Republican Narco-logical Dispensary in the period from 2019 to 2021. Results: the presence of suicidal tendencies was detected in 39% of patients (136/344). 30% (42/136) were classified as patients with ex-ternal and internal forms of suicidal behavior, 70% (94/136) had only internal forms of suicidal behavior. Carriages of the CC and TT genotypes of the DRD2 gene (rs1800497) are characterized by a lower frequency of occurrence of all forms of suicidal behavior than carriages of СТ genotype. Also, carriages of the CC genotype of the DRD2 gene (rs1800497) are characterized by a lower frequency of occurrence of external forms of suicidal behavior than carriages of СТ and TT genotypes. Conclusions. The data we present indicate the possible contribution of genetic factors to the risk of suicidal behavior in individuals with alcohol dependence syndrome. There is a need for further research to explain the relationships between the circadian rhythm system, alcohol use disorders and suicidal behavior.
{"title":"Genetic Associations of the Polymorphic Variant of the DRD2 (rs1800497) Gene with Forms of Suicidal Behavior in Patients with Alcohol Dependence","authors":"E. Y. Bardina, U. S. Efremova, A. M. Baikova3, D. V. Bobrik, R. S. Achuvakov, V. L. Akhmetova, I. S. Efremov","doi":"10.52667/10.52667/2712-9179-2024-4-1-26-31","DOIUrl":"https://doi.org/10.52667/10.52667/2712-9179-2024-4-1-26-31","url":null,"abstract":"Suicide is a serious public health problem. A deeper understanding of the underlying mechanisms and processes that lead to suicidal behavior is crucial for the development of effective preventive strategies. The study and identification of biomarkers will help in understanding the underlying processes or changes associated with suicide, however, studies linking biomarkers to suicide are limited and fragmented. Objective- To study the genetic associations of the polymorphic variant of the DRD2 gene (rs1800497) with forms of suicidal behavior in patients with alcohol dependence. Materials and methods: The association of polymorphic variants of the gene DRD2 (rs1800497) was analysed in patients with alcohol dependence syndrome, with a history of suicidal behavior and without it, living in the Republic of Bashkortostan, who were treated at the Republican Narco-logical Dispensary in the period from 2019 to 2021. Results: the presence of suicidal tendencies was detected in 39% of patients (136/344). 30% (42/136) were classified as patients with ex-ternal and internal forms of suicidal behavior, 70% (94/136) had only internal forms of suicidal behavior. Carriages of the CC and TT genotypes of the DRD2 gene (rs1800497) are characterized by a lower frequency of occurrence of all forms of suicidal behavior than carriages of СТ genotype. Also, carriages of the CC genotype of the DRD2 gene (rs1800497) are characterized by a lower frequency of occurrence of external forms of suicidal behavior than carriages of СТ and TT genotypes. Conclusions. The data we present indicate the possible contribution of genetic factors to the risk of suicidal behavior in individuals with alcohol dependence syndrome. There is a need for further research to explain the relationships between the circadian rhythm system, alcohol use disorders and suicidal behavior.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":" 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140384972","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 : 2023-11-15DOI: 10.52667/2712-9179-2023-3-2-15-24
E. V. Ovchinnikova, E. Vaiman, N. A. Shnayder, A. A. Ovchinnikova, R. Nasyrova
Hepatolenticular degeneration (HLD) or Wilson-Konovalov disease (OMIM277900) is a hereditary monogenic autosomal recessive degenerative disease related to metabolic diseases - a category of storage diseases. HLD has been studied for more than 130 years. During this time, more classifications of this disease were proposed. In this review, we systematized all the proposed classifications of HLD. And we noticed, they are based on the following criteria: 1) clinical signs of the disease; 2) the sequence of their appearance as the pathology progresses (with the primary appearance of signs of liver or brain damage); 3) severity of the disease. This review also systematizes data on the clinical picture of HLD.
{"title":"Classification and Clinical Heterogeneity of Hepatolenticular Degeneration","authors":"E. V. Ovchinnikova, E. Vaiman, N. A. Shnayder, A. A. Ovchinnikova, R. Nasyrova","doi":"10.52667/2712-9179-2023-3-2-15-24","DOIUrl":"https://doi.org/10.52667/2712-9179-2023-3-2-15-24","url":null,"abstract":"Hepatolenticular degeneration (HLD) or Wilson-Konovalov disease (OMIM277900) is a hereditary monogenic autosomal recessive degenerative disease related to metabolic diseases - a category of storage diseases. HLD has been studied for more than 130 years. During this time, more classifications of this disease were proposed. In this review, we systematized all the proposed classifications of HLD. And we noticed, they are based on the following criteria: 1) clinical signs of the disease; 2) the sequence of their appearance as the pathology progresses (with the primary appearance of signs of liver or brain damage); 3) severity of the disease. This review also systematizes data on the clinical picture of HLD.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"62 1-2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139274358","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 : 2023-11-15DOI: 10.52667/2712-9179-2023-3-2-72-119
www.JPPN.ru, N. Shnayder, Alla V. Kidyaeva, E. Vaiman, A. Asadullin, Marina M Petrova, D. S. Kaskaeva, Gennady V. Matyushin, Aleksandr A. Evsyukov, Elena V. Galko, N. Garganeeva, Galina A Chumakova, N. Lareva, Nikolai G. Neznanov, Regina F. Nasyrova, В. .. Presynaptic, Monoamine Reuptake, Nonselective Presynaptic Monoamine, Reuptake, Tricyclic Antidepressants
Antidepressants (ADs) include drugs of various pharmacological groups, which are mainly used for the treatment of mental disorders (major depressive disorder, obsessive-compulsive disorder, social phobia, panic disorder, generalized anxiety disorder, post-traumatic stress disorder), chronic pain and addiction diseases. Chronic use of ADs can lead to the development of cardiotoxic adverse drug reactions (ADRs). The most important cardiotoxic AD-induced ADRs are prolongation of the QT interval, ventricular tachycardia of the "pirouette" type (Torsades de Pointes - TdP). This narrative review analyzes and summarizes the results of studies on pharmacokinecis and pharmacogenetics of ADs on QT interval prolongation and updates physicians' knowledge of the risk of developing AD-induced TdP in patients with psychiatric disorders.
抗抑郁药（ADs）包括不同药理类别的药物，主要用于治疗精神障碍（重度抑郁症、强迫症、社交恐惧症、恐慌症、广泛性焦虑症、创伤后应激障碍）、慢性疼痛和成瘾性疾病。长期服用抗抑郁药会导致心脏毒性药物不良反应（ADR）的发生。最重要的心脏毒性 AD 引起的不良反应是 QT 间期延长、"回旋 "型室性心动过速（Torsades de Pointes - TdP）。这篇叙述性综述分析并总结了有关抗抑郁药对 QT 间期延长的药代动力学和药物遗传学的研究结果，并更新了医生对精神疾病患者发生抗抑郁药所致 TdP 风险的认识。
{"title":"Role of Pharmacokinetics and Pharmacogenetics of Antidepressant-Induced Prolongation of the QT Interval and Torsade de Pointes in Patients with Mental Disorders","authors":"www.JPPN.ru, N. Shnayder, Alla V. Kidyaeva, E. Vaiman, A. Asadullin, Marina M Petrova, D. S. Kaskaeva, Gennady V. Matyushin, Aleksandr A. Evsyukov, Elena V. Galko, N. Garganeeva, Galina A Chumakova, N. Lareva, Nikolai G. Neznanov, Regina F. Nasyrova, В. .. Presynaptic, Monoamine Reuptake, Nonselective Presynaptic Monoamine, Reuptake, Tricyclic Antidepressants","doi":"10.52667/2712-9179-2023-3-2-72-119","DOIUrl":"https://doi.org/10.52667/2712-9179-2023-3-2-72-119","url":null,"abstract":"Antidepressants (ADs) include drugs of various pharmacological groups, which are mainly used for the treatment of mental disorders (major depressive disorder, obsessive-compulsive disorder, social phobia, panic disorder, generalized anxiety disorder, post-traumatic stress disorder), chronic pain and addiction diseases. Chronic use of ADs can lead to the development of cardiotoxic adverse drug reactions (ADRs). The most important cardiotoxic AD-induced ADRs are prolongation of the QT interval, ventricular tachycardia of the \"pirouette\" type (Torsades de Pointes - TdP). This narrative review analyzes and summarizes the results of studies on pharmacokinecis and pharmacogenetics of ADs on QT interval prolongation and updates physicians' knowledge of the risk of developing AD-induced TdP in patients with psychiatric disorders.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"92 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139274533","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 : 2023-11-15DOI: 10.52667/2712-9179-2023-3-2-32-37
N. A. Sivakova, I. V. Abramova, V. P. Rybasova, I. Y. Trukhina, L. V. Lukina, R. Nasyrova, V. A. Mikhailov, G. E. Mazo
The effect of anticonvulsants on bone mineral density changes in epileptic patients is an important and relevant scientific question. This brief review focuses on assessing the existing knowledge on how antiepileptic drugs affect bone mineral density. The review examines the various mechanisms that may influence bone mineral density when anticonvulsants are taken. Based on a literature search and analysis, advances in the field are identified and their contribution to the current understanding of the issue is assessed. Overall, this review can serve as an informative resource for understanding the relationship between antiepileptic drugs and bone mineral density and as a direction for future research.
{"title":"The Effect of Anticonvulsants on Bone Mineral Density: Brief Review","authors":"N. A. Sivakova, I. V. Abramova, V. P. Rybasova, I. Y. Trukhina, L. V. Lukina, R. Nasyrova, V. A. Mikhailov, G. E. Mazo","doi":"10.52667/2712-9179-2023-3-2-32-37","DOIUrl":"https://doi.org/10.52667/2712-9179-2023-3-2-32-37","url":null,"abstract":"The effect of anticonvulsants on bone mineral density changes in epileptic patients is an important and relevant scientific question. This brief review focuses on assessing the existing knowledge on how antiepileptic drugs affect bone mineral density. The review examines the various mechanisms that may influence bone mineral density when anticonvulsants are taken. Based on a literature search and analysis, advances in the field are identified and their contribution to the current understanding of the issue is assessed. Overall, this review can serve as an informative resource for understanding the relationship between antiepileptic drugs and bone mineral density and as a direction for future research.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"63 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139272829","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 : 2023-11-15DOI: 10.52667/2712-9179-2023-3-2-38-47
A. K. Khasanova
(1) Introduction: Despite modern therapies, approximately 20-30% of patients with schizophrenia remain resistant to psychopharmacotherapy. Clozapine is the only antipsychotic with proven efficacy for treatment resistance in schizophrenia (TRS). The most common adverse drug reaction (ADR) during clozapine administration are metabolic disturbances, particularly metabolic syndrome (MS). Because MS leads to a twofold increase in mortality from cardiovascular disease and a 1.5-fold increase in mortality from all causes, and clozapine is often the only treatment option for TRS, it is critical to monitor and management metabolic abnormalities. The high interindividual differences in the development of clozapine-induced MS suggest that genetic factors may play an important role. (2) Purpose: The aim of this study was to identify relevant single nucleotide polymorphisms (SNPs) of candidate genes for clozapine-induced MS, because based on these data, a genetic risk panel can be constructed to assess the likelihood of developing clozapine-induced MS in patients with schizophrenia. (3) Materials and Methods: We searched for full-text publications in PubMed, Web of Science, Springer, Google Scholar, and electronic libraries in English and Russian, available from inception to 30 October 2023. Keywords were the following: metabolic disturbances, clozapine, metabolic syndrome, schizophrenia, genes, adverse drug reactions, antipsychotics, pharmacogenetics, genetic biomarker, single nucleotide variant, polymorphism, association, variation, and metabolic syndrome genes. (4) Results: we included 6 naturalistic cross-sectional open-label trials, included patients with schizophrenia, schizoaffective, schizophreniform disorder or psychotic disorder, who were treated with first and second generations antipsychotics, among which there was also clozapine and 1 meta-analysis which reviewed association between HTR2C gene polymorphisms and anti-psychotic-induced MS in schizophrenia patients. According to the results of our scoping review the carriage of SNPs in the studied candidate genes associated with clozapine-induced MS are the following: 1) CYP1A2 gene: genotype AA of rs762551 (NG_008431.2:g.32035C>A); 2) CYP2C19 gene: CYP2C19*2 polymorphism; 3) HTR2C gene: genotype CC of rs518147 (NM_000868.2:c.-697G>C), minor allele C of rs1414334 (NG_012082.3:g.324497C>G), genotype CC of rs518147 (NM_000868.2:c.-697G>C), genotype GG of rs12836771 (NG_012082.3:g.71829A>G); 4) LEP gene: genotypes AG and GG of rs7799039 (NG_044977.1:g.475G>A); 5) LEPR gene: genotypes AG and GG of rs1137101 (NG_015831.2:g.177266A>G). (4) Conclusions: Uncovering the genetic biomarkers of clozapine-induced MS may provide a key to developing a strategy for the personalized prevention and treatment of this ADRs of clozapine in patients with schizophrenia spectrum disorders in real clinical practice.
{"title":"Pharmacogenetic Factors of Clozapine-Induced Metabolic Syndrome","authors":"A. K. Khasanova","doi":"10.52667/2712-9179-2023-3-2-38-47","DOIUrl":"https://doi.org/10.52667/2712-9179-2023-3-2-38-47","url":null,"abstract":"(1) Introduction: Despite modern therapies, approximately 20-30% of patients with schizophrenia remain resistant to psychopharmacotherapy. Clozapine is the only antipsychotic with proven efficacy for treatment resistance in schizophrenia (TRS). The most common adverse drug reaction (ADR) during clozapine administration are metabolic disturbances, particularly metabolic syndrome (MS). Because MS leads to a twofold increase in mortality from cardiovascular disease and a 1.5-fold increase in mortality from all causes, and clozapine is often the only treatment option for TRS, it is critical to monitor and management metabolic abnormalities. The high interindividual differences in the development of clozapine-induced MS suggest that genetic factors may play an important role. (2) Purpose: The aim of this study was to identify relevant single nucleotide polymorphisms (SNPs) of candidate genes for clozapine-induced MS, because based on these data, a genetic risk panel can be constructed to assess the likelihood of developing clozapine-induced MS in patients with schizophrenia. (3) Materials and Methods: We searched for full-text publications in PubMed, Web of Science, Springer, Google Scholar, and electronic libraries in English and Russian, available from inception to 30 October 2023. Keywords were the following: metabolic disturbances, clozapine, metabolic syndrome, schizophrenia, genes, adverse drug reactions, antipsychotics, pharmacogenetics, genetic biomarker, single nucleotide variant, polymorphism, association, variation, and metabolic syndrome genes. (4) Results: we included 6 naturalistic cross-sectional open-label trials, included patients with schizophrenia, schizoaffective, schizophreniform disorder or psychotic disorder, who were treated with first and second generations antipsychotics, among which there was also clozapine and 1 meta-analysis which reviewed association between HTR2C gene polymorphisms and anti-psychotic-induced MS in schizophrenia patients. According to the results of our scoping review the carriage of SNPs in the studied candidate genes associated with clozapine-induced MS are the following: 1) CYP1A2 gene: genotype AA of rs762551 (NG_008431.2:g.32035C>A); 2) CYP2C19 gene: CYP2C19*2 polymorphism; 3) HTR2C gene: genotype CC of rs518147 (NM_000868.2:c.-697G>C), minor allele C of rs1414334 (NG_012082.3:g.324497C>G), genotype CC of rs518147 (NM_000868.2:c.-697G>C), genotype GG of rs12836771 (NG_012082.3:g.71829A>G); 4) LEP gene: genotypes AG and GG of rs7799039 (NG_044977.1:g.475G>A); 5) LEPR gene: genotypes AG and GG of rs1137101 (NG_015831.2:g.177266A>G). (4) Conclusions: Uncovering the genetic biomarkers of clozapine-induced MS may provide a key to developing a strategy for the personalized prevention and treatment of this ADRs of clozapine in patients with schizophrenia spectrum disorders in real clinical practice.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"14 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139273118","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 : 2023-11-15DOI: 10.52667/2712-9179-2023-3-2-61-71
www.JPPN.ru, O. Balberova, N. Shnayder, Evgeny V. Lekontsev, V. V. Trefilova
When performing maximum loads, an important criterion for assessing prospects is the achievement of the best result with the least metabolic changes in the body of athletes, which indicates the possibility of further increasing physical performance. The study of the mechanisms of energy supply and the reaction of body systems when testing performance under special conditions is one of the important conditions for the development of additional biochemical criteria for assessing the prospects of athletes. Purpose: To study genetic and physiological predictors of bioenergetic adaptation of skeletal muscles in athletes of cyclic sports. Methods: 76 athletes of cyclic sports (speed skating, running disciplines in track-and-field) of European origin who lived in the Southern Urals region took part in the study. The average age of the study participants was 22.1 ± 2.5 y.o. Experience in sports was at least 5 years. We used the Step One Real-Time PCR System (Applied Biosystems, USA) device for real-time polymerase chain reaction. The study of bio-energetic indicators of athletes' physical performance was carried out using the bicycle ergometry method (test with maximum load). Biochemical studies were carried out using a Lactate Scout Plus lactometer. Results: Significant differences were found in the ΔLa (%) indicator: in athletes with a dominant homozygous genotype R/R, lactate clearance during a 10-minute rest after performing a bicycle ergometer load is statistically significantly higher than in athletes with a recessive homozygous genotype X/X (20.14±12.74%, versus 11.11±3.12%; p<0.05). The major allele C (R) was associated with moderate and high lactate clearance (OR = 2.25 [95% CI: 0.99 – 5.11] and OR = 2.24 [95% CI: 0.91 – 5.51], respectively). At the same time, a statistically significant association was identified between the minor allele T(X) and the homozygous genotype TT (XX) with low lactate clearance (OR = 12.14 [95% CI: 1.30 – 13.55]). High values of lactate clearance indicate the utilization of lactate from peripheral blood and more efficient recovery processes in carriers of the major allele C (R). Conclusions: lactate clearance during a 10-minute rest period after a bicycle ergometer test with maximum load and DNA profiling of the ACTN3 gene rs1815739 can be recommended as significant physiological and genetic predictors of bioenergetic adaptation of skeletal muscles in cyclical sports athletes of Caucasian origin in the Southern Urals.
{"title":"Genetic and Physiological Predictors of Bioenergetic Adaptation Skeletal Muscles in Athletes of Cyclic Sports","authors":"www.JPPN.ru, O. Balberova, N. Shnayder, Evgeny V. Lekontsev, V. V. Trefilova","doi":"10.52667/2712-9179-2023-3-2-61-71","DOIUrl":"https://doi.org/10.52667/2712-9179-2023-3-2-61-71","url":null,"abstract":"When performing maximum loads, an important criterion for assessing prospects is the achievement of the best result with the least metabolic changes in the body of athletes, which indicates the possibility of further increasing physical performance. The study of the mechanisms of energy supply and the reaction of body systems when testing performance under special conditions is one of the important conditions for the development of additional biochemical criteria for assessing the prospects of athletes. Purpose: To study genetic and physiological predictors of bioenergetic adaptation of skeletal muscles in athletes of cyclic sports. Methods: 76 athletes of cyclic sports (speed skating, running disciplines in track-and-field) of European origin who lived in the Southern Urals region took part in the study. The average age of the study participants was 22.1 ± 2.5 y.o. Experience in sports was at least 5 years. We used the Step One Real-Time PCR System (Applied Biosystems, USA) device for real-time polymerase chain reaction. The study of bio-energetic indicators of athletes' physical performance was carried out using the bicycle ergometry method (test with maximum load). Biochemical studies were carried out using a Lactate Scout Plus lactometer. Results: Significant differences were found in the ΔLa (%) indicator: in athletes with a dominant homozygous genotype R/R, lactate clearance during a 10-minute rest after performing a bicycle ergometer load is statistically significantly higher than in athletes with a recessive homozygous genotype X/X (20.14±12.74%, versus 11.11±3.12%; p<0.05). The major allele C (R) was associated with moderate and high lactate clearance (OR = 2.25 [95% CI: 0.99 – 5.11] and OR = 2.24 [95% CI: 0.91 – 5.51], respectively). At the same time, a statistically significant association was identified between the minor allele T(X) and the homozygous genotype TT (XX) with low lactate clearance (OR = 12.14 [95% CI: 1.30 – 13.55]). High values of lactate clearance indicate the utilization of lactate from peripheral blood and more efficient recovery processes in carriers of the major allele C (R). Conclusions: lactate clearance during a 10-minute rest period after a bicycle ergometer test with maximum load and DNA profiling of the ACTN3 gene rs1815739 can be recommended as significant physiological and genetic predictors of bioenergetic adaptation of skeletal muscles in cyclical sports athletes of Caucasian origin in the Southern Urals.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"30 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139275885","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}
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