Pub Date : 2021-05-15DOI: 10.52667/2712-9179-2021-1-1-11-17
E. Vaiman, M. Novitsky, R. Nasyrova
Antipsychotics (AP) is a group of psychotropic drugs for the treatment of mental disorders, in particular schizophrenia. In the mid-1950s, the first AP was synthesized (known as chlorpromazine (CPZ)). This drug has revolutionized the treatment of psychotic disorders. This drug, in addition to the antipsychotic effect, caused severe adverse drug reactions in patients, in particular from the neurological system, such as AP-induced extrapyramidal syndrome (EPS) — chlorpromazine-in-duced parkinsonism (CPZ-IP). CPZ-IP characterized by the occurrence of motor disorders. CPZ-IP is as a result of damage to the basal ganglia and subcortical-thalamic connections. Drug-induced EPS is subdivided into primary and secondary. Among the primary EPS, drug-IP is the most common (the leading form of secondary parkinsonism). Pharmacogenetic markers of CPZ safety are being actively studied. Some pharmacogenetic markers of therapy safety have been established: single nucleotide variants/polymorphisms of candidate genes for dopaminergic receptors D2 and D3 (DRD2 (rs1799732 (-141C Ins/Del)), DRD3 (rs6280 (Ser9Gly)), laforine phosphatase (EPM2A (rs1415744 (C/T)).
{"title":"Pharmacogenetics of chlorpromazine and its role in the development of antipsychotic-induced parkinsonism","authors":"E. Vaiman, M. Novitsky, R. Nasyrova","doi":"10.52667/2712-9179-2021-1-1-11-17","DOIUrl":"https://doi.org/10.52667/2712-9179-2021-1-1-11-17","url":null,"abstract":"Antipsychotics (AP) is a group of psychotropic drugs for the treatment of mental disorders, in particular schizophrenia. In the mid-1950s, the first AP was synthesized (known as chlorpromazine (CPZ)). This drug has revolutionized the treatment of psychotic disorders. This drug, in addition to the antipsychotic effect, caused severe adverse drug reactions in patients, in particular from the neurological system, such as AP-induced extrapyramidal syndrome (EPS) — chlorpromazine-in-duced parkinsonism (CPZ-IP). CPZ-IP characterized by the occurrence of motor disorders. CPZ-IP is as a result of damage to the basal ganglia and subcortical-thalamic connections. Drug-induced EPS is subdivided into primary and secondary. Among the primary EPS, drug-IP is the most common (the leading form of secondary parkinsonism). Pharmacogenetic markers of CPZ safety are being actively studied. Some pharmacogenetic markers of therapy safety have been established: single nucleotide variants/polymorphisms of candidate genes for dopaminergic receptors D2 and D3 (DRD2 (rs1799732 (-141C Ins/Del)), DRD3 (rs6280 (Ser9Gly)), laforine phosphatase (EPM2A (rs1415744 (C/T)).","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"38 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134631431","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 : 2021-05-15DOI: 10.52667/2712-9179-2021-1-1-18-36
Vladimir V. Kravtsov, N. Shnayder, Nikolay G. Neznanov, Alexander A. Krivopalov, Yan K. Yanov, Regina F. Nasyrova, P. A. Shamkina, Oksana A. Gavrilyuk
(1) Introduction: An imbalance of the genetically determined cytokine response plays a key role in the etiology of ENT-associated encephalitis. In recent years, an attempt has been made to evaluatethe prognostic role of chronic pathology of the paranasal sinuses in the development of acute, subacute and chronic encephalitis and meningitis, which in clinical practice are manifested both as cerebral and focal neurological symptoms and as mental disorders: from borderline to psychotic ones. The problem requires a multidisciplinary approach on the part of the specialists in the following clinical disciplines: neurology (as well as neurobiology), psychiatry, immunology, experimental medicine, otorhinolaryngology, and pharmacogenetics. The solution of this problem is possible with the involvement of preventive and personalized medicine.(2) The purpose: Evaluation the prognostic role of genetic polymorphisms of pro- and antiinflammatory cytokines in the development of ENT-associated encephalitis.(3) Materials and Methods: We conducted a keyword-based analysis of the English and Russian-language articles published within the past 30 years (from 1988 to 2018). The following databases were used in the study: PubMed, MedLine, Web of Science Core Collection (Clarivate Analytics), Web Science, Russian Science Citation Index, Scopus, Scientific Research, Google Scholar, Oxford Press, and eLibrary.(4) Results: In a number of the analyzed works, regardless of the causative agent and viral load, an increased level of pro-inflammatory cytokine production was noted in patients with more severe disease progression, neurological complications and unfavorable outcomes, both in viral encephalitis and in bacterial one. Based on this, 30 single nucleotide variants (SNV), their influence on the expression of pro- and anti-inflammatory cytokine genes, as well as their predictor role in the development of ENT-associated encephalitis were analyzed. Due to the nature of the systemic immune response, the analysis included both cerebral and extracerebral pathology-associated SNV. The inconsistency of the previously obtained results was noted, an attempt to explain this phenomenon was made. The analysis of the dynamics and geography of publications on the stated topic was made, the leading Russian scientific centers in the field were defined. The most promising SNV for further studies were identified.(5) Conclusion: The risk of developing ENT-associated encephalitis is associated with a genetically determined status of the cytokine response and its regulation. Studies of the association of various SNV of genes encoding pro- and anti-inflammatory cytokines in the Russian Federation need to be continued.
{"title":"Genetic predictors of cytokine response in ENT-associated encephalitis","authors":"Vladimir V. Kravtsov, N. Shnayder, Nikolay G. Neznanov, Alexander A. Krivopalov, Yan K. Yanov, Regina F. Nasyrova, P. A. Shamkina, Oksana A. Gavrilyuk","doi":"10.52667/2712-9179-2021-1-1-18-36","DOIUrl":"https://doi.org/10.52667/2712-9179-2021-1-1-18-36","url":null,"abstract":"(1) Introduction: An imbalance of the genetically determined cytokine response plays a key role in the etiology of ENT-associated encephalitis. In recent years, an attempt has been made to evaluatethe prognostic role of chronic pathology of the paranasal sinuses in the development of acute, subacute and chronic encephalitis and meningitis, which in clinical practice are manifested both as cerebral and focal neurological symptoms and as mental disorders: from borderline to psychotic ones. The problem requires a multidisciplinary approach on the part of the specialists in the following clinical disciplines: neurology (as well as neurobiology), psychiatry, immunology, experimental medicine, otorhinolaryngology, and pharmacogenetics. The solution of this problem is possible with the involvement of preventive and personalized medicine.(2) The purpose: Evaluation the prognostic role of genetic polymorphisms of pro- and antiinflammatory cytokines in the development of ENT-associated encephalitis.(3) Materials and Methods: We conducted a keyword-based analysis of the English and Russian-language articles published within the past 30 years (from 1988 to 2018). The following databases were used in the study: PubMed, MedLine, Web of Science Core Collection (Clarivate Analytics), Web Science, Russian Science Citation Index, Scopus, Scientific Research, Google Scholar, Oxford Press, and eLibrary.(4) Results: In a number of the analyzed works, regardless of the causative agent and viral load, an increased level of pro-inflammatory cytokine production was noted in patients with more severe disease progression, neurological complications and unfavorable outcomes, both in viral encephalitis and in bacterial one. Based on this, 30 single nucleotide variants (SNV), their influence on the expression of pro- and anti-inflammatory cytokine genes, as well as their predictor role in the development of ENT-associated encephalitis were analyzed. Due to the nature of the systemic immune response, the analysis included both cerebral and extracerebral pathology-associated SNV. The inconsistency of the previously obtained results was noted, an attempt to explain this phenomenon was made. The analysis of the dynamics and geography of publications on the stated topic was made, the leading Russian scientific centers in the field were defined. The most promising SNV for further studies were identified.(5) Conclusion: The risk of developing ENT-associated encephalitis is associated with a genetically determined status of the cytokine response and its regulation. Studies of the association of various SNV of genes encoding pro- and anti-inflammatory cytokines in the Russian Federation need to be continued.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134504352","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 : 2021-05-15DOI: 10.52667/2712-9179-2021-1-1-64-72
O. Balberova
Sports injuries prevention is one of the key issues of the training process and reducing the risk of developing anxiety and depressive disorders in professional athletes. One of peculiarities of sports injuries is the loss of the ability to train in view of the tendon-ligamentous apparatus integrity, joints, muscles or bones violation. In cyclic sports, the most common are injuries to the ankle joint, injuries to muscles and tendons, and sprains. Injuries to ligaments and tendons are the result of multifactorial problems, including the discrepancy between training effects and the genetically determined capabilities of the athlete's body. Sports injuries consequences are determined by complex interactions between the athlete's genotype and environmental factors, in particular training influences. (1) Background: to review scientific articles on the problem of research on candidate genes and single-nucleotide variants (SNVs) of genes associated with muscle, tendon, and ligament injuries in cyclic sports athletes. (2) Methods: a search of articles for the period from 2008 to 2020 was conducted in the databases e-LIBRARY, SCOPUS, Web of Science, Google Scholar, Clinical keys, PubMed using the keywords: personalized medicine, genetics, candidate genes, single-nucleotide variant, polymorphism, muscle, tendon, injury, athlete. (3) Results: Studies have shown that muscle and tendon injuries in cyclical sports athletes are associated with SNV rs1800012, rs1107946 of the COL1A1 gene, SNV rs12722 of the COL5A1 gene, SNV rs679620 of the MMR3 gene, SNV rs2289360 of the ELN gene, SNV rs143383 of the GDF5 gene. The most studied polymorphisms are rs1800012, rs1107946 of the COL1A1 gene, rs12722 of the COL5A1 gene, and rs143383 of the GDF5 gene. The variable results of associative genetic studies and genome-wide studies are most likely due to the racial and ethnic heterogeneity of the samples and differences in the study design. (4) Conclusions: Identification of genetic markers associated with injuries and diseases of the musculoskeletal system, ligamentous apparatus, and the ability of tissue to regenerate can help sports doctors and coaches develop personalized strategies to prevent or reduce muscles, joints, and ligaments diseases in athletes. The translation of these research results into the training and treatment process is important for improving cyclic sports athletes' performance, reducing their professional mala-daptation and anxiety and depressive disorders development risk.
{"title":"Candidate genes and single-nucleotide gene variants associated with muscle and tendon injuries in cyclic sports athletes","authors":"O. Balberova","doi":"10.52667/2712-9179-2021-1-1-64-72","DOIUrl":"https://doi.org/10.52667/2712-9179-2021-1-1-64-72","url":null,"abstract":"Sports injuries prevention is one of the key issues of the training process and reducing the risk of developing anxiety and depressive disorders in professional athletes. One of peculiarities of sports injuries is the loss of the ability to train in view of the tendon-ligamentous apparatus integrity, joints, muscles or bones violation. In cyclic sports, the most common are injuries to the ankle joint, injuries to muscles and tendons, and sprains. Injuries to ligaments and tendons are the result of multifactorial problems, including the discrepancy between training effects and the genetically determined capabilities of the athlete's body. Sports injuries consequences are determined by complex interactions between the athlete's genotype and environmental factors, in particular training influences. (1) Background: to review scientific articles on the problem of research on candidate genes and single-nucleotide variants (SNVs) of genes associated with muscle, tendon, and ligament injuries in cyclic sports athletes. (2) Methods: a search of articles for the period from 2008 to 2020 was conducted in the databases e-LIBRARY, SCOPUS, Web of Science, Google Scholar, Clinical keys, PubMed using the keywords: personalized medicine, genetics, candidate genes, single-nucleotide variant, polymorphism, muscle, tendon, injury, athlete. (3) Results: Studies have shown that muscle and tendon injuries in cyclical sports athletes are associated with SNV rs1800012, rs1107946 of the COL1A1 gene, SNV rs12722 of the COL5A1 gene, SNV rs679620 of the MMR3 gene, SNV rs2289360 of the ELN gene, SNV rs143383 of the GDF5 gene. The most studied polymorphisms are rs1800012, rs1107946 of the COL1A1 gene, rs12722 of the COL5A1 gene, and rs143383 of the GDF5 gene. The variable results of associative genetic studies and genome-wide studies are most likely due to the racial and ethnic heterogeneity of the samples and differences in the study design. (4) Conclusions: Identification of genetic markers associated with injuries and diseases of the musculoskeletal system, ligamentous apparatus, and the ability of tissue to regenerate can help sports doctors and coaches develop personalized strategies to prevent or reduce muscles, joints, and ligaments diseases in athletes. The translation of these research results into the training and treatment process is important for improving cyclic sports athletes' performance, reducing their professional mala-daptation and anxiety and depressive disorders development risk.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"42 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124739781","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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