Personalized Psychiatry and Neurology最新文献

{"title":"Clinical Features of Essential Tremor in the Two Ethnic Groups","authors":"T. Govorova, T. Popova, A. Tappakhov, M. Andreev","doi":"10.52667/2712-9179-2023-3-2-54-60","DOIUrl":"https://doi.org/10.52667/2712-9179-2023-3-2-54-60","url":null,"abstract":"Objective: The aim of the study was to study the clinical features of essential tremor (ET) in residents of the Republic of Sakha (Yakutia) in various ethnic groups.Material and methods. The study involved 53 patients with an established diagnosis of essential tremor. All patients underwent a detailed neurological examination with a quantitative assessment of the severity and severity of tremor, as well as the degree of maladjustment and activity in everyday life using unified scales.Results and Discussions. It was revealed that the clinical variant of essential tremor-plus, associated with a more severe course and disability of patients. In the representatives of the Russian ethnic group, with the classic version of essential tremor, a combination of head tremor and hand tremor is observed, as well as a more rapid progression of disease symptoms. Representatives of the Yakut ethnic group in the clinical picture of essential tremor-plus are statistically significantly more likely to have a dystonic head position.Conclusion. Clinical variability of essential tremor with differences in the ethnic aspect in the rate of progression and in the frequency of the combination of action tremor with dystonic head position was demonstrated.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"64 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139275955","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}

{"title":"Clinical Features of Subjective Cognitive Decline in The Early Stages of Alzheimer’s Disease","authors":"Personalized Psychiatry, Neurology Lection, J. V. Kotsiubinskaya, Vladimir A. Mikhailov, Anton V. Kazakov, V. M. Bekhterev","doi":"10.52667/2712-9179-2023-3-2-3-14","DOIUrl":"https://doi.org/10.52667/2712-9179-2023-3-2-3-14","url":null,"abstract":"Subclinical stage of the disease precedes the clinical stage of moderate cognitive decline in Alzheimer's disease (AD). Subjective cognitive decline (SCD) — a condition in which the level of cognitive function habitual for the subject gradually begins to decrease. In 2021, researchers from the National Institute on Aging and the Alzheimer's Association (NIA-AA) clinical criteria for the diagnosis of SCD have been proposed, as well as features that increase the probability of preclinical stage AD in patients with moderate cognitive impairment have been identified. Patients should be offered a complex of examinations — questionnaires regarding the impact of memory impairment on current cognitive activity (forgetfulness, searching for things, difficulty finding words, etc.), testable self-report of cognitive dynamics, neuropsychological testing and diagnosis of pathopsychological changes such as depression and anxiety. It would appear that counselling in the form of interviews and/or testing of persons able to provide relevant information about the patient should be included in the examination of patients with complaints of memory disorders, regardless of their degree of severity. It may be necessary to conduct a survey on the patient’s daily activity, ability to self-service (score, orientation, planning, control and so on), as well as to obtain information about any memory-related changes that have become visible to others, because it is the data from the partner/relative that increase the predictive value of the diagnostic. The modern approach to the study of cognitive functions in elderly people without dementia in the long-term is certainly able to help identify people with a high risk of developing AD.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"74 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139272393","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}

{"title":"The Role of Family, Microsocial and Medical History in The Shaping of Trajectories of Complex Opioid and Cannabis Addiction: Results of Machine Learning Modeling","authors":"T. Syunyakov, I. Khayredinova, Z. Ashurov","doi":"10.52667/2712-9179-2023-3-2-120-133","DOIUrl":"https://doi.org/10.52667/2712-9179-2023-3-2-120-133","url":null,"abstract":"Introduction: The widespread misuse of opioids and cannabis is a notable global public health concern. The substantial public health concern due to the misuse of opioids and cannabis, individually and concurrently, is associated with vast societal implications. Identification of risk factors for developing misuse of these substances is of utmost importance. This study aims at developing a machine learning-based model to classify groups of opioid or cannabis dependents using family, microsocial, and medical history variables, and to identify the most significant variables associated with each group.Methods: This naturalistic observational non-interventional study enrolled adult patients diagnosed with opioid use disorder, cannabis use disorder, or a combination of both. Machine learning models, including Stacking, Logistic Regression, Gradient Boosting, k-Nearest Neighbors (kNN), Naive Bayes, Support Vector Machines (SVM), Random Forest, and Decision Tree, were used to classify patients and predict their risk factors based on various personal history variables.Results: The patient groups showed significant differences in their working fields, marital status before and after the formation of drug addiction, substance misuse in relatives, family type, parent-child relationships, and birth order. They also differed significantly in fleeing from home and personality types. Machine learning models provided high classification accuracy across all substance dependence groups, particularly for the cannabis group (>90% accuracy). Significant differences were found among the complex misuse group, where individuals faced severe psychosocial issues originating from the familial environment, such as a history of fleeing home, coming from a single-parent family, and dominant parent-child relationships.Discussion: The methods used in this study provided robust and reliable assessments of the models' predictive performances. The results pointed to significant differences in familial and developmental factors between the three dependence groups. The complex dependence group showed more severe psychosocial issues originating from the family environment. This group also revealed a specific sequence of life events and conditions predictive of complex dependence. These findings highlight the importance of interventions that address risk factors across various life stages and domains. Conclusion: Early identification of high-risk individuals and understanding the risk factors can inform the development of effective interventions at both individual and societal levels, ultimately aiming at mitigating dependence risks and improving overall well-being. Further research with longitudinal designs and diverse populations are needed to increase our understanding of trajectory of addiction formation in order to deliver effective interventions for individuals at risk.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"8 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139273430","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}

{"title":"Candidate Genes Associated with the Course of Epilepsy in Cerebral Palsy: Remission or Refractoriness","authors":"P. L. Sokolov, N. V. Chebanenko, D. M. Mednaya, Vladimir V. Arkhipov","doi":"10.52667/2712-9179-2023-3-2-48-53","DOIUrl":"https://doi.org/10.52667/2712-9179-2023-3-2-48-53","url":null,"abstract":"Epilepsy often accompanies congenital cerebral palsy (CP). Canalopathies can be the cause of congenital epilepsy. The aim of the study is to determine the influence of various determinants on the course of epilepsy. Materials and methods: The results of clinical and genetic analysis of 136 cases of cerebral palsy (CP) with epilepsy are presented. The patients were divided into groups according to the syndromes according to the classification of CP (Panteliadis and R. Korinthenberg, 2005). Epileptic syndromes were divided into three groups: focal childhood epilepsy with structural brain changes and benign epileptiform discharges (BEDC) in EEG - 41 children (30.1%), structural focal epilepsy - 37 children (27.2%), epileptic encephalopathies 58 children (42.7%). Pathogenic variants in genes were confirmed by next generation sequencing (NGS) Sanger methods of venous blood. Results. Remission was more difficult to achieve in patients with determinants of regulation of general aspects of cellular metabolism, mitochondrial function, cytoskeleton formation and function, and transport across the outer membrane. The need for polypharmacy was in the groups that regulate the function of mitochondria, the formation and functioning of the cytoskeleton, and the regulation of membrane excitability. Conclusion. Determinant analysis provides a better understanding of the mechanisms of patient responsiveness to anticonvulsant therapy. The determinant of mitochondrial function most significantly affects its effectiveness. Probably, the violation of energy metabolism in the cell neutralizes the stabilization of the neuronal membrane under the influence of anticonvulsants. The determinant of the formation and functioning of the cytoskeleton, according to our preliminary data, is associated with the formation of malformations of the brain. In this case, the refractoriness of epilepsy can be secondary and determined by the severity of structural changes in the brain.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"65 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139274532","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}

{"title":"Phenocopy of Amyotrophic Lateral Sclerosis in Patients with Chiari 1 Malformation Associated Syringomyelia: Brief Literature Review","authors":"M. Al-Zamil, N. G. Kulikova","doi":"10.52667/2712-9179-2023-3-2-25-31","DOIUrl":"https://doi.org/10.52667/2712-9179-2023-3-2-25-31","url":null,"abstract":"Arnold-Chiari malformation or Chiari malformation (CM1) is the name of a group of deformities of the posterior fossa and hindbrain (cerebellum, pons and medulla oblongata). The pathogenetic basis of this disease is associated with herniation of the cerebellar tonsils through the foramen magnum. CM1 is classified as a rare disease. CM1 can present with a wide variety of symptoms, also non-specific, with consequent controversies on diagnosis and surgical decision-making, particularly in asymptomatic or minimally symptomatic. Syringomyelia (Syr), hydrocephalus, craniocervical instability, encephalocele, scoliosis, spina bifida and spinal dysraphism are the most common comorbidities that may present at the time of diagnosis or develop secondarily. Most attention has been paid to syringomyelia complicated by CM1 (CM1-related Syr). Formation of single or multiple fluid-filled cavities in the spinal cord and/or bulb as a result of pulse changes in intracranial pressure associated with disruption of normal cerebrospinal fluid circulation due to morphological abnormalities of the brain at the magnum level. This condition can be complicated by a rarer disease caused by the development of damage to the anterior horns of the spinal cord - amyotrophic sclerosis (ALS syndrome). In this brief literature review we are trying to demonstrate the mean pathogenic basis of amyotrophic lateral sclerosis in patients with chiari 1 malformation associated syringomyelia.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139273004","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}

{"title":"Genetic Profiling of the Nitric Oxide Synthases’ System in a 55-Year-Old Woman with the Tension-Type Headache and Arterial Hypertension Phenotype: Case Report","authors":"P. V. Alyabyeva","doi":"10.52667/2712-9179-2022-2-2-84-89","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-2-84-89","url":null,"abstract":"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.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"9 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":"126087087","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}

{"title":"Application of Patient-Reported Outcomes in Back Pain in Adults: Part 1","authors":"V. V. Trefilova, N. A. Shnayder, M. Novitsky, O. A. Ovdienko, Z. A. Nurgaliev","doi":"10.52667/2712-9179-2022-2-2-34-46","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-2-34-46","url":null,"abstract":"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.","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":"129458350","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}

{"title":"Pathophysiological and Genetic Aspects of the Brain–Skin Axis: The Role of Stress and Inflammation in Skin Aging","authors":"O. B. Borzykh","doi":"10.52667/2712-9179-2022-2-2-28-33","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-2-28-33","url":null,"abstract":"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.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"11 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":"133907714","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}

{"title":"Pharmacogenetic Testing of Cytochrome P450 System Enzymes in the Therapy of Bipolar Affective Disorder","authors":"A. K. Khasanova, R. Nasyrova","doi":"10.52667/2712-9179-2022-2-2-90-96","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-2-90-96","url":null,"abstract":"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.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"34 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":"131952846","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}

{"title":"Clinical Case of a 36-year-old Patient with Paranoid Schizophrenia and Drug-Induced QT Prolongation","authors":"N. M. Zhuravlev, A. P. Otmachov, A. E. Bartasinskaya","doi":"10.52667/2712-9179-2022-2-2-78-83","DOIUrl":"https://doi.org/10.52667/2712-9179-2022-2-2-78-83","url":null,"abstract":"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.","PeriodicalId":414041,"journal":{"name":"Personalized Psychiatry and Neurology","volume":"8 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":"125261519","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}