Personalized Psychiatry and Neurology

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Vol 2, Issue 2 (2022)



3-27 63

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.

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Aging is a genetically programmed process that is influenced by a large number of external and internal factors. The most frequently discussed factor accelerating aging is UV radiation. But among other factors that accelerate aging, we should not forget about chronic stress and chronic inflammation. These factors are interrelated with each other and can mutually enhance the effect of each other. In particular, chronic stress and inflammation can also affect skin aging. So, the skin is an organ of stress factors, as well as sources of some stress factors. Since the topic of the effects of chronic stress and inflammation, and especially its genetic aspects, are quite rare in the literature, the purpose of this review was to combine the available data on the pathogenesis and genetic aspects of stress and inflammation when exposed to skin aging.

34-46 44

The aim of the research is generalization of information about the most common foreign and domestic scales and questionnaires used in acute and chronic back pain (BP). The analysis of Russian-language and foreign literature was carried out with a search depth of 5 years (2016–2021) in the following databases: e-Library, PubMed, Oxford Press, Clinical Keys, Springer, Elsevier, Google Scholar. For the diagnosis of acute and chronic BP and the assessment of the characteristics of its course in dynamics, both a standardized study may be use: collection of complaints, anamnesis, objective examination, assessment of neurological status, as well as valid scales and questionnaires. For the timely diagnosis and monitoring of the development of BP in patients, a wide range of scales and questionnaires were proposed, which were conventionally ranked into 4 groups: scales for assessing the quality of life of patients with BP; scales for assessing the characteristics of pain in BP; scales for assessing the outcomes of the disease in BP; scales for assessing disability in BP. The first part of the thematic review presents an analysis of the advantages and disadvantages of scales for assessing the quality of life of patients with BP. These perspective scales for assessing the quality of life of patients with BP are popular in the world neurological practice. It is necessary to adapt to the use in domestic clinical practice the Stratford Functional Back Pain Scale, the Index of Disability Associated with Pain, The Patient Assessment for Low Back Pain–Impacts.

47-56 73

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.

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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.


67-77 30

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.


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Heart rhythm and conduction disorders are a serious problem in chronic psychopharmacotherapy of schizophrenia. One potentially fatal antipsychotic-induced adverse reaction is drug[1]induced long QT syndrome, which is a phenomenon of prolongation of cardiac repolarization and leads to an increased risk of ventricular tachycardia, known as Torsades de pointes, in the presence of an administered drug [1]. The clinical diagnosis of this adverse drug reaction is difficult, however, electrocardiography and Holter ECG monitoring are the gold standard for the functional diagnosis of long QT syndrome, although they do not give the psychiatrist an answer about the possible correction of mono- or polytherapy for schizophrenia in a particular patient. Pharmacogenetic testing is an integral part of the personalized strategy of psychopharmacotherapy in modern psychiatry. Slowing the efflux of antipsychotics through the histohematic barriers and the membrane of neurons and cardiomyocytes, along with slowing down the metabolism of antipsychotics in the liver with the participation of cytochrome P450 enzymes, can significantly increase the risk of antipsychotics induced long QT syndrome and sudden death syndrome. The purpose of this clinical case is to update the existing problem of pharmacogenetic testing in real psychiatric practice and demonstrate possible ways to solve the problem of antipsychotic-induced long QT syndrome in a young man with paranoid schizophrenia.

84-89 35

The tension-type headache (TTH) and arterial hypertension (AH) phenotype is a common overlap syndrome in adult patients. A genetically determined disturbance of the nitric oxide (NO) synthesis system is actively considered as one of the important possible pathogenetic mechanisms for the development of this phenotype. Neuronal NO-synthase is expressed both in the brain, skeletal muscles, and in the vascular endothelium; therefore, single-nucleotide variants of the NOS1 gene, encoding this enzyme, are the most interesting, but insufficiently studied genetic biomarkers of the TTH and AH phenotype. The aim of the case report is to present the experience of using genetic profiling of the nitric oxide synthases’ system in a 55-year-old patient with treatment-resistant TTH and AH phenotype.

90-96 31

Bipolar affective disorder (BPS) is a common and socially significant mental disorder that requires long-term use of psychotropic drugs (PDs). Long-term use of PDs 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 PDs metabolism by cytochrome P450 enzymes. Pharmacogenetic testing (PGx) is a method to identify a group of patients with a high risk of developing PDs -induced ADRs. Our experience of using PGx to search for low-functional and non-functional single nucleotide variants (SNVs) / polymorphisms of the CYP1A2, CYP2C8, CYP3A4, CYP3A5 and CYP2D6 genes encoding cytochrome P450 enzymes involved in PDs metabolism demonstrates the importance of this new personalized approach to the choice of PDs 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 the therapy of dipolar affective disorder.

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ISSN 2712-9179 (Online)