Pub Date : 2022-11-15DOI: 10.52667/2712-9179-2022-2-2-47-56
A. Petrov, G. V. Medvedev, D. V. Pushkin, L. Rodomanova, M. M. Petrova
Dupuytren's disease (DD) is a common multifactorial disease accompanied by deformity of the hand with flexion contracture of one or more fingers, limitation of their mobility and a fixed lesion. This disease refers to disorders of the connective tissue. Objective: to generalize the results of studies of environmental risk factors for DD and update existing ideas about modifiable and non-modifiable predictors of the disease in adults. Methods. We searched for full-text English-language publications in the PubMed, Springer, Scopus, Clinical Keys, Oxford Press, Google Scholar, eLIBRARY. Results. The most significant modifiable predictors of the development of DD include (top 5): occupation; hobby; lifestyle; comorbid diseases; drugs. Non-modifiable predictors include (top 5): gender; age; ethnos; race; genetics. Genetic predictors of DD are not well understood, but the number of candidate genes responsible for the development of DD is increasing and reaches the top 50 or more candidate genes with a statistically significant association with the risk of developing DD in adults. The most studied candidate genes are DUPC1, MMP2, MMP9, TIMP1, TIMP2, WNT4, WNT7B. Discussion. Primary and secondary prevention of DD requires accounting of the mutual influence of modifiable and non-modifiable predictors in the disease development, as well as a personalized approach in planning and choosing non-surgical and surgical treatment, as well as the carriage of single nucleotide variants (SNVs) candidate genes associated with the development of DD. A promising direction in the prevention of disabling complications of DD may be the development of decision-making information programs (personalized algorithms) that take into account non-genetic and genetic predictors in a particular person, and their implementation in real clinical practice. Conclusion. Large multicenteral studies of the influence and mutual influence of modifiable and non-modifiable predictors with a single design are required in the future.
{"title":"Modifiable and Non-Modifiable Predictors of Dupuytren’s Disease","authors":"A. Petrov, G. V. Medvedev, D. V. Pushkin, L. Rodomanova, M. M. Petrova","doi":"10.52667/2712-9179-2022-2-2-47-56","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-2-47-56","url":null,"abstract":"Dupuytren's disease (DD) is a common multifactorial disease accompanied by deformity of the hand with flexion contracture of one or more fingers, limitation of their mobility and a fixed lesion. This disease refers to disorders of the connective tissue. Objective: to generalize the results of studies of environmental risk factors for DD and update existing ideas about modifiable and non-modifiable predictors of the disease in adults. Methods. We searched for full-text English-language publications in the PubMed, Springer, Scopus, Clinical Keys, Oxford Press, Google Scholar, eLIBRARY. Results. The most significant modifiable predictors of the development of DD include (top 5): occupation; hobby; lifestyle; comorbid diseases; drugs. Non-modifiable predictors include (top 5): gender; age; ethnos; race; genetics. Genetic predictors of DD are not well understood, but the number of candidate genes responsible for the development of DD is increasing and reaches the top 50 or more candidate genes with a statistically significant association with the risk of developing DD in adults. The most studied candidate genes are DUPC1, MMP2, MMP9, TIMP1, TIMP2, WNT4, WNT7B. Discussion. Primary and secondary prevention of DD requires accounting of the mutual influence of modifiable and non-modifiable predictors in the disease development, as well as a personalized approach in planning and choosing non-surgical and surgical treatment, as well as the carriage of single nucleotide variants (SNVs) candidate genes associated with the development of DD. A promising direction in the prevention of disabling complications of DD may be the development of decision-making information programs (personalized algorithms) that take into account non-genetic and genetic predictors in a particular person, and their implementation in real clinical practice. Conclusion. Large multicenteral studies of the influence and mutual influence of modifiable and non-modifiable predictors with a single design are required in the future.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114992790","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 : 2022-11-15DOI: 10.52667/2712-9179-2022-2-2-1-2
D. Sychev
.
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{"title":"\"Multiomic\" Studies as a Promising Clinical Pharmacological Tool for Personalization of Socially Significant Diseases Pharmacotherapy in Russia","authors":"D. Sychev","doi":"10.52667/2712-9179-2022-2-2-1-2","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-2-1-2","url":null,"abstract":"<jats:p>.</jats:p>","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"205 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132454196","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 : 2022-11-15DOI: 10.52667/2712-9179-2022-2-2-67-77
I. V. Gatckikh
Background: Cognitive disorders are common in patients with type 2 diabetes mellitus (DM2) and affect the quality of life, work and social adaptation. Diagnosis of cognitive disorders is carried out using various tests, each of which has its own advantages and disadvantages. Aim: To study of the association between serum level of BDNF and the severity of cognitive disorders in patients with DM2. Materials and methods: Included in the study 61 patients with DM2 complicated by central neuropathy with cognitive disorders and 28 clinically healthy volunteers without DM2. The cognitive and depressive disorders were evaluated using the Montreal Cognitive Assessment (MoCA), Frontal Assessment Batter (FAB), Hospital Anxiety and Depression Scale (HADS). The serum level of BDNF was determined via the method of enzyme-linked immunosorbent assay ac[1]cording. Results: Cognitive disorders in patients with DM2 manifests in the form of disorders of spatial orientation, attention and short-term memory. Frontal dysfunction, mainly in the form of impaired conceptualization and grasping reflexes, was recorded in 30% of patients with DM2. The serum level of BDNF in patients with DM2 is significantly lower than in healthy volunteers and is associated with the duration of DM2, the serum level of HbA1c. Conclusion: Serum level of BDNF may by potential biochemical marker of metabolic cognitive disorders in DM2.
{"title":"Association of Serum BDNF with Severity of Cognitive Disorders in Patients with Type 2 Diabetes","authors":"I. V. Gatckikh","doi":"10.52667/2712-9179-2022-2-2-67-77","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-2-67-77","url":null,"abstract":"Background: Cognitive disorders are common in patients with type 2 diabetes mellitus (DM2) and affect the quality of life, work and social adaptation. Diagnosis of cognitive disorders is carried out using various tests, each of which has its own advantages and disadvantages. Aim: To study of the association between serum level of BDNF and the severity of cognitive disorders in patients with DM2. Materials and methods: Included in the study 61 patients with DM2 complicated by central neuropathy with cognitive disorders and 28 clinically healthy volunteers without DM2. The cognitive and depressive disorders were evaluated using the Montreal Cognitive Assessment (MoCA), Frontal Assessment Batter (FAB), Hospital Anxiety and Depression Scale (HADS). The serum level of BDNF was determined via the method of enzyme-linked immunosorbent assay ac[1]cording. Results: Cognitive disorders in patients with DM2 manifests in the form of disorders of spatial orientation, attention and short-term memory. Frontal dysfunction, mainly in the form of impaired conceptualization and grasping reflexes, was recorded in 30% of patients with DM2. The serum level of BDNF in patients with DM2 is significantly lower than in healthy volunteers and is associated with the duration of DM2, the serum level of HbA1c. Conclusion: Serum level of BDNF may by potential biochemical marker of metabolic cognitive disorders in DM2.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"45 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128659200","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 : 2022-11-15DOI: 10.52667/2712-9179-2022-2-2-57-66
L. Gorobets, N. Semenova, A. Litvinov
This paper covers the role of gender factor in the efficacy and tolerance of antipsychotic therapy in patients with schizophrenic spectrum disorders. The author describes phenomenology of definitions that characterizes differences between male and female sexes. The authors give the data on biological basis of gender differences, frequency of occurrence and clinical features of neuroendocrine dysfunctions (NED) in patients with schizophrenic spectrum disorders during the therapy by first and second generations antipsychotics. It is shown that female patients are more “vulnerable” for some NED. It is emphasized that the problem of tolerance is now more relevant and significant in comparison with the efficacy of antipsychotics, because intolerance or poor tolerance are one of the most common reasons for non-adherence to therapy up to the complete abandonment of it.
{"title":"Application of Antipsychotic Medication: Gender Differences in Tolerance and Medication Response","authors":"L. Gorobets, N. Semenova, A. Litvinov","doi":"10.52667/2712-9179-2022-2-2-57-66","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-2-57-66","url":null,"abstract":"This paper covers the role of gender factor in the efficacy and tolerance of antipsychotic therapy in patients with schizophrenic spectrum disorders. The author describes phenomenology of definitions that characterizes differences between male and female sexes. The authors give the data on biological basis of gender differences, frequency of occurrence and clinical features of neuroendocrine dysfunctions (NED) in patients with schizophrenic spectrum disorders during the therapy by first and second generations antipsychotics. It is shown that female patients are more “vulnerable” for some NED. It is emphasized that the problem of tolerance is now more relevant and significant in comparison with the efficacy of antipsychotics, because intolerance or poor tolerance are one of the most common reasons for non-adherence to therapy up to the complete abandonment of it.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132523279","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 : 2022-11-15DOI: 10.52667/2712-9179-2022-2-2-3-27
O. Balberova, E. Bykov, E. Sidorkina, M. M. Petrova, N. A. Shnayder
As the practice of modern elite sports shows, the functional capabilities of the athlete's body have almost reached their limit. Further increase in the volume and intensity of physical activity is associated with the risk of desadaptative changes in the athlete's body. It is known that in endurance sports, the cardiovascular system is the main limiting factor in achieving a high athletic result. In this regard, a promising approach is to search for molecular genetic markers associated with high functional reserve of the cardiovascular system of athletes. A personalized approach in sports practice is an effective tool for sports selection, development of personalized training pro-grams to optimize the health status and achieve high performance of an athlete, as well as for the prevention of sports traumatism. (1) Background: to conduct a systematic review of the studies of candidate genes and their single-nucleotide variants (SNVs) associated with the functioning of the cardiovascular system in cyclical sports athletes.(2) Methods: A search for publications between 2000 - 2021 in the databases SCOPUS, Web of Science, Google Scholar, PubMed, e-LIBRARY, using the key words and their combinations; (3) Conclusions: the Identification of genetic markers (SNVs and polymorphisms of the ACE, BDKRB2, CMA1B, NOS3 and VEGFA genes) associated with the functional reserve of the cardiovascular system, can help cardiologists, sports physicians and trainers in developing personalized strategies for the selection of children / teenagers and the choice of sports specializations. Such a personalized approach will increase sports performance and reduce the risk of overtraining and failure to adapt during a difficult competitive period.
现代精英运动的实践表明，运动员的身体机能几乎已经达到了极限。体育活动量和强度的进一步增加与运动员身体发生不适应变化的风险有关。众所周知，在耐力运动中，心血管系统是取得高成绩的主要限制因素。在这方面，一个有希望的方法是寻找与运动员心血管系统高功能储备相关的分子遗传标记。体育实践中的个性化方法是运动员选择运动项目，制定个性化训练方案，优化运动员健康状态，实现高水平运动，预防运动创伤的有效工具。(1)研究背景:对与周期性运动运动员心血管系统功能相关的候选基因及其单核苷酸变异(snv)研究进行系统综述。(2)方法:检索SCOPUS、Web of Science、谷歌Scholar、PubMed、e-LIBRARY等数据库2000 - 2021年间发表的论文，使用关键词及其组合;(3)结论:确定与心血管系统功能储备相关的遗传标记(ACE、BDKRB2、CMA1B、NOS3和VEGFA基因的snv和多态性)，可以帮助心脏病专家、运动医生和训练师制定个性化的儿童/青少年选择和运动专业选择策略。这种个性化的方法将提高运动表现，减少过度训练和在困难的竞争时期无法适应的风险。
{"title":"Genetic Biomarkers of Cardiovascular and Cerebrovascular Reserves in Athletes","authors":"O. Balberova, E. Bykov, E. Sidorkina, M. M. Petrova, N. A. Shnayder","doi":"10.52667/2712-9179-2022-2-2-3-27","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-2-3-27","url":null,"abstract":"As the practice of modern elite sports shows, the functional capabilities of the athlete's body have almost reached their limit. Further increase in the volume and intensity of physical activity is associated with the risk of desadaptative changes in the athlete's body. It is known that in endurance sports, the cardiovascular system is the main limiting factor in achieving a high athletic result. In this regard, a promising approach is to search for molecular genetic markers associated with high functional reserve of the cardiovascular system of athletes. A personalized approach in sports practice is an effective tool for sports selection, development of personalized training pro-grams to optimize the health status and achieve high performance of an athlete, as well as for the prevention of sports traumatism. (1) Background: to conduct a systematic review of the studies of candidate genes and their single-nucleotide variants (SNVs) associated with the functioning of the cardiovascular system in cyclical sports athletes.(2) Methods: A search for publications between 2000 - 2021 in the databases SCOPUS, Web of Science, Google Scholar, PubMed, e-LIBRARY, using the key words and their combinations; (3) Conclusions: the Identification of genetic markers (SNVs and polymorphisms of the ACE, BDKRB2, CMA1B, NOS3 and VEGFA genes) associated with the functional reserve of the cardiovascular system, can help cardiologists, sports physicians and trainers in developing personalized strategies for the selection of children / teenagers and the choice of sports specializations. Such a personalized approach will increase sports performance and reduce the risk of overtraining and failure to adapt during a difficult competitive period.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130181162","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: 10.52667/2712-9179-2022-2-1-67-72
K. Mironov, I. I. Gaponova, V. Korchagin, A. Esman, E. Dunaeva, V. A. Zhivotova, V. Dobrodeeva, N. A. Shnayder, N. Neznanov, R. Nasyrova
The antipsychotic-induced metabolic disorders (AIMD) are common side effects during the treatment of schizophrenia. Single nucleotide polymorphisms in the genes associated with AIMD, in particular in the leptin and neuropeptide Y genes were explored. The aim of this study was to develop a real-time PCR technique for SNP allele discrimination and allele frequency estimation in the Russian population. A total of 9 real-time PCR tests for rs7799039, rs1137101, rs8179183, rs16147, rs6837793, rs11100494, rs1414334, rs3813929 and rs518147 SNPs were developed and examined using 106 DNA samples. The revealed allele frequencies did not show any statistically significant differences with ones for the Caucasian population from Ensembl data base. Thus, our results are in accordance with the allele frequencies for the studied populations and allow using published data on the risk alleles for the development of new diagnostics PCR kits for the complex diagnostics of AIMD.
{"title":"PCR-based Approach for Determining the Genetic Risk Factors of Antipsychotic-Induced Metabolic Disorders","authors":"K. Mironov, I. I. Gaponova, V. Korchagin, A. Esman, E. Dunaeva, V. A. Zhivotova, V. Dobrodeeva, N. A. Shnayder, N. Neznanov, R. Nasyrova","doi":"10.52667/2712-9179-2022-2-1-67-72","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-1-67-72","url":null,"abstract":"The antipsychotic-induced metabolic disorders (AIMD) are common side effects during the treatment of schizophrenia. Single nucleotide polymorphisms in the genes associated with AIMD, in particular in the leptin and neuropeptide Y genes were explored. The aim of this study was to develop a real-time PCR technique for SNP allele discrimination and allele frequency estimation in the Russian population. A total of 9 real-time PCR tests for rs7799039, rs1137101, rs8179183, rs16147, rs6837793, rs11100494, rs1414334, rs3813929 and rs518147 SNPs were developed and examined using 106 DNA samples. The revealed allele frequencies did not show any statistically significant differences with ones for the Caucasian population from Ensembl data base. Thus, our results are in accordance with the allele frequencies for the studied populations and allow using published data on the risk alleles for the development of new diagnostics PCR kits for the complex diagnostics of AIMD.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"10 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":"132405328","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: 10.52667/2712-9179-2022-2-1-4-21
N. Shnayder, A. Abdyrakhmanova, Regina F. Nasyrova
Antipsychotics (APs) are a class of psychotrophic medication primarily used to managepsychosis (including delusions, hallucinations, paranoia or disordered thought), principally inschizophrenia but also in a range of other psychotic disorders. Biotransformation is a major mechanism for APs elimination. Most APs undergo biotransformation, or metabolism, after they enter the body. There are three phases of APs metabolism. Cytochrome P450 (CYP) monooxygenase (mixed function oxidase) plays a central role in the most APs biotransformation. CYP’s functional activity depends on gene-drug and drug-drug interaction and influences on occurrence of adverse drug reactions (ADRs). So, it is extremely important for a practicing psychiatrist to know the oxidation pathway of APs, since most of them are metabolized in the liver and this is important both to prevent ADRs and to avoid unwanted drug-drug interactions, which will undoubtedly increase theeffectiveness and safety of AP therapy.
{"title":"Phase I of Antipsychotics Metabolism and its Pharmacogenetic Testing","authors":"N. Shnayder, A. Abdyrakhmanova, Regina F. Nasyrova","doi":"10.52667/2712-9179-2022-2-1-4-21","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-1-4-21","url":null,"abstract":"Antipsychotics (APs) are a class of psychotrophic medication primarily used to managepsychosis (including delusions, hallucinations, paranoia or disordered thought), principally inschizophrenia but also in a range of other psychotic disorders. Biotransformation is a major mechanism for APs elimination. Most APs undergo biotransformation, or metabolism, after they enter the body. There are three phases of APs metabolism. Cytochrome P450 (CYP) monooxygenase (mixed function oxidase) plays a central role in the most APs biotransformation. CYP’s functional activity depends on gene-drug and drug-drug interaction and influences on occurrence of adverse drug reactions (ADRs). So, it is extremely important for a practicing psychiatrist to know the oxidation pathway of APs, since most of them are metabolized in the liver and this is important both to prevent ADRs and to avoid unwanted drug-drug interactions, which will undoubtedly increase theeffectiveness and safety of AP therapy.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"213 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":"114740270","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: 10.52667/2712-9179-2022-2-1-81-88
A. Abdyrakhmanova, 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. Pharmacogenetic testing (PGx) is a method to identify a group of patients with a high risk of developing AP-induced ADRs. Our experience of using PGx to search for low-functional and non-functional single nucleotide variants (SNVs) / polymorphisms of the CYP1A2, CYP2C9, CYP3A4, CYP3A5 and CYP2D6) genes encoding cytochrome P450 enzymes involved in APs metabolism demonstrates the importance of this new personalized approach to the choice of APs and its dosing in patients with pharmacogenetic profile poor metabolizer. The main purpose of the case report is to present the experience of using PGx in a 28-year-old patient with treatment-resistant schizophrenia and a medical history of AP-induced ADRs.
{"title":"Pharmacogenetic Testing of Cytochrome P450 Metabolizing Enzymes in 28-Year-Old Man with Treatment-Resistant Schizophrenia","authors":"A. Abdyrakhmanova, R. Nasyrova","doi":"10.52667/2712-9179-2022-2-1-81-88","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-1-81-88","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. Pharmacogenetic testing (PGx) is a method to identify a group of patients with a high risk of developing AP-induced ADRs. Our experience of using PGx to search for low-functional and non-functional single nucleotide variants (SNVs) / polymorphisms of the CYP1A2, CYP2C9, CYP3A4, CYP3A5 and CYP2D6) genes encoding cytochrome P450 enzymes involved in APs metabolism demonstrates the importance of this new personalized approach to the choice of APs and its dosing in patients with pharmacogenetic profile poor metabolizer. The main purpose of the case report is to present the experience of using PGx in a 28-year-old patient with treatment-resistant schizophrenia and a medical history of AP-induced ADRs.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"66 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":"124852544","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: 10.52667/2712-9179-2022-2-1-46-56
Z. A. Nurgaliev, V. V. Trefilova, M. Al-Zamil, N. A. Shnayder
The intervertebral discs degeneration (IDD) is one of the leading structural substrates, causing chronic low back pain (LBP). LBP is a common neurological disorder but the LPB genetic predictors have not been sufficiently studied. Fibril collagens are important components of the nucleus pulposus, the anulus fibrosus and the vertebral endplate. Collagen type I is most studied as a structural component of the nucleus pulposus and the anulus fibrosus of the intervertebral disc. Single nucleotide variants (SNVs) of genes encoding alpha-1 and alpha-2 chains of collagen type I are associated with IDD, but the results of genetical studies are not translated into action. (1) The purpose of the study is the analysis of associative genetic and genome-wide studies of the COL1 gene family role in the development of IDD and LBP. The study of the COL1A1 gene’s SNVs association of with the IDD is important for the perspective of personalized neurology. A personalized approach can help to identify patients at high risk of the IDD developing and its complications, including intervertebral disc herniation and spinal stenoses in young and working age patients. On the other hand, the role of nutritional support for patients, carriers of the SNV risk alleles in the COL1A1 gene, including collagen hydrolysates and oxyproline preparations has not been sufficiently studied.
{"title":"The Role of Type I Collagen in Intervertebral Disc Degeneration","authors":"Z. A. Nurgaliev, V. V. Trefilova, M. Al-Zamil, N. A. Shnayder","doi":"10.52667/2712-9179-2022-2-1-46-56","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-1-46-56","url":null,"abstract":"The intervertebral discs degeneration (IDD) is one of the leading structural substrates, causing chronic low back pain (LBP). LBP is a common neurological disorder but the LPB genetic predictors have not been sufficiently studied. Fibril collagens are important components of the nucleus pulposus, the anulus fibrosus and the vertebral endplate. Collagen type I is most studied as a structural component of the nucleus pulposus and the anulus fibrosus of the intervertebral disc. Single nucleotide variants (SNVs) of genes encoding alpha-1 and alpha-2 chains of collagen type I are associated with IDD, but the results of genetical studies are not translated into action. (1) The purpose of the study is the analysis of associative genetic and genome-wide studies of the COL1 gene family role in the development of IDD and LBP. The study of the COL1A1 gene’s SNVs association of with the IDD is important for the perspective of personalized neurology. A personalized approach can help to identify patients at high risk of the IDD developing and its complications, including intervertebral disc herniation and spinal stenoses in young and working age patients. On the other hand, the role of nutritional support for patients, carriers of the SNV risk alleles in the COL1A1 gene, including collagen hydrolysates and oxyproline preparations has not been sufficiently studied.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"31 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":"125076192","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: 10.52667/2712-9179-2022-2-1-73-80
I. S. Efremov, A. Asadullin, E. Akhmetova, L. R. Migranova, V. Yuldashev, N. A. Marfina, E. R. Kunafina, M. N. Gilmiyarova, D. H. Kalimullina, S. U. Tuktarova, E. Y. Sidorova, V. Dobrodeeva, R. Nasyrova
Background: Suicidal behaviour is the leading cause of mortality from external causes at all ages worldwide. More than a million people commit completed suicide each year. According to the World Health Organisation, 25-50% of suicide victims suffered from alcohol and other substance use disorders, 22% of all suicide deaths were attributable to alcohol use (WHO, 2014). Several papers have suggested potential associations of insomnia and increased suicide risk in patients with alcoholism. We hypothesise that mutations in melatonin receptor genes may be associated with suicide risk in patients with alcoholism.Methods. The Insomnia Severity Index (ISI) was used as a tool to assess the presence and severity of insomnia. The Columbia Suicide Severity Rating Scale (C-SSRS) was used as a method to examine suicidal behavior. Genotyping of MTNR1A (rs34532313), MTNR1B (rs10830963) genes was performed using real-time polymerase chain reaction (RT-PCR). A comparative genetic study of two groups of patients was carried out: the first group, patients with alcohol dependence syndrome (F10.2); the second group, patients with alcohol dependence syndrome (F10.2) and insomnia, which persisted 7-14 days after starting alcohol withdrawal therapy.Results. Suicidal thoughts and a history of auto-aggressive behaviour were more common in subjects with insomnia in the post-withdrawal period. Carriers of the TT genotype of the MTNR1A gene (rs34532313) were more likely to have suicidal thoughts and a history of suicide attempts in a genetic study of patients with insomnia.Conclusions. Our study found that the TT genotype of the MTNR1A gene (rs34532313) is a genetic marker of suicidal behaviour risk in patients with insomnia in the post-withdrawal period. However, the same pattern was not observed in patients without insomnia.
{"title":"Association of single nucleotide variants rs34532313 of the MTNR1A gene and rs10830963 of the MTNR1B gene with suicidal risk in alcohol dependence syndrome and insomnia","authors":"I. S. Efremov, A. Asadullin, E. Akhmetova, L. R. Migranova, V. Yuldashev, N. A. Marfina, E. R. Kunafina, M. N. Gilmiyarova, D. H. Kalimullina, S. U. Tuktarova, E. Y. Sidorova, V. Dobrodeeva, R. Nasyrova","doi":"10.52667/2712-9179-2022-2-1-73-80","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-1-73-80","url":null,"abstract":"Background: Suicidal behaviour is the leading cause of mortality from external causes at all ages worldwide. More than a million people commit completed suicide each year. According to the World Health Organisation, 25-50% of suicide victims suffered from alcohol and other substance use disorders, 22% of all suicide deaths were attributable to alcohol use (WHO, 2014). Several papers have suggested potential associations of insomnia and increased suicide risk in patients with alcoholism. We hypothesise that mutations in melatonin receptor genes may be associated with suicide risk in patients with alcoholism.Methods. The Insomnia Severity Index (ISI) was used as a tool to assess the presence and severity of insomnia. The Columbia Suicide Severity Rating Scale (C-SSRS) was used as a method to examine suicidal behavior. Genotyping of MTNR1A (rs34532313), MTNR1B (rs10830963) genes was performed using real-time polymerase chain reaction (RT-PCR). A comparative genetic study of two groups of patients was carried out: the first group, patients with alcohol dependence syndrome (F10.2); the second group, patients with alcohol dependence syndrome (F10.2) and insomnia, which persisted 7-14 days after starting alcohol withdrawal therapy.Results. Suicidal thoughts and a history of auto-aggressive behaviour were more common in subjects with insomnia in the post-withdrawal period. Carriers of the TT genotype of the MTNR1A gene (rs34532313) were more likely to have suicidal thoughts and a history of suicide attempts in a genetic study of patients with insomnia.Conclusions. Our study found that the TT genotype of the MTNR1A gene (rs34532313) is a genetic marker of suicidal behaviour risk in patients with insomnia in the post-withdrawal period. However, the same pattern was not observed in patients without insomnia.","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":"128719525","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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