Pub Date : 2024-04-07DOI: 10.17650/2073-8803-2024-19-1-48-53
P. L. Sokolov, N. V. Chebanenko, Yu. A. Fedotova, D. M. Mednaya
Progress in molecular genetics is gradually leading to a radical revision of the understanding of the nature of not only recognized genetically determined diseases, but also those whose genetic nature has only been assumed. More and more information is emerging about polygenic and/or multifactorial diseases. The authors P.L. Sokolov and N.V. Chebanenko in 2022 proposed the concept of a neurotropic genome and the classification of genes, according to their “areas of responsibility” – points of application of determinant activity. There is a growing number of scientific works on the dependence of the pathological phenotype on the nature of the mutation and its localization along the gene.In this article, using the example of Wolf–Hirschhorn syndrome, variants of the dependence of the phenotype on the location of the genome abnormality are considered. A case of a disease from the authors’ practice, in which epilepsy and cerebral palsy predominate, is presented; the phenotype is analyzed with the nature and location of the identified genetic anomaly. The authors make assumption about the connection between the nature and location of the genome anomaly and the characteristics of the phenotype.
{"title":"Epilepsy and congenital cerebral palsy: Parallels between the location of genome anomalies and clinical manifestations","authors":"P. L. Sokolov, N. V. Chebanenko, Yu. A. Fedotova, D. M. Mednaya","doi":"10.17650/2073-8803-2024-19-1-48-53","DOIUrl":"https://doi.org/10.17650/2073-8803-2024-19-1-48-53","url":null,"abstract":"Progress in molecular genetics is gradually leading to a radical revision of the understanding of the nature of not only recognized genetically determined diseases, but also those whose genetic nature has only been assumed. More and more information is emerging about polygenic and/or multifactorial diseases. The authors P.L. Sokolov and N.V. Chebanenko in 2022 proposed the concept of a neurotropic genome and the classification of genes, according to their “areas of responsibility” – points of application of determinant activity. There is a growing number of scientific works on the dependence of the pathological phenotype on the nature of the mutation and its localization along the gene.In this article, using the example of Wolf–Hirschhorn syndrome, variants of the dependence of the phenotype on the location of the genome abnormality are considered. A case of a disease from the authors’ practice, in which epilepsy and cerebral palsy predominate, is presented; the phenotype is analyzed with the nature and location of the identified genetic anomaly. The authors make assumption about the connection between the nature and location of the genome anomaly and the characteristics of the phenotype.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"17 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140732910","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 : 2024-04-07DOI: 10.17650/2073-8803-2024-19-1-18-24
E. A. Sandu, A. S. Kotov
Background. Remission in general sense means disappearance of signs and symptoms of the disease. The risk of recurrence of seizures is usually evaluated only in terms of the risk of a second unprovoked seizure after the first one or the risk of recurrence of seizures after discontinuation of therapy. There are no studies that assess the probability of achieving a second remission in patients with recurrent seizures.Aim. To develop a tool for assessing the probability of favorable and unfavorable treatment outcomes after recurrent seizures in adult patients with different forms of epilepsy.Materials and methods. We analyzed data from 215 patients with recurrent seizures after achieving remission, followed up for 12 or more months, and analyzed disease outcomes.Results and conclusion. At the end of the study, repeat remission was observed in 67 patients, improvement in 48, and no effect in 100. Patients with remission and improvement were combined into a “favorable outcome” group (n = 115), while patients with no effect from therapy formed an “unfavorable outcome” group (n = 100).Patients with an unfavorable outcome were statistically significantly more likely to have factors such as longer disease duration, coexisting serious somatic diseases, structural etiology of epilepsy, bilateral tonic-clonic seizures with focal onset, focal forms of epilepsy, daily seizures, epileptogenic changes on neuroimaging, and regional epileptiform activity on EEG (p <0.05). In turn, patients with a favorable outcome were statistically significantly more likely to have factors such as genetic etiology of epilepsy, generalized tonic-clonic seizures, absences, myoclonic seizures, generalized forms of epilepsy, no pathology on neuroimaging, diffuse epileptiform activity on electroencephalogram, and no pathology on electroencephalogram (p <0.05).Based on the obtained data using the results of constructing contingency tables, a scale for assessing the probability of achieving repeat remission in patients with recurrent epileptic seizures was developed, consisting of 9 sections. To assess the effectiveness of the model, ROC analysis was performed, confirming statistically significant sensitivity and specificity of the obtained scale.Further research is needed to develop more accurate predictors of epilepsy outcomes to understand the peculiarities of the disease pathogenesis.
{"title":"Assessing the outcome of drug therapy in adult patients with epilepsy who have experienced seizure recurrence after remission","authors":"E. A. Sandu, A. S. Kotov","doi":"10.17650/2073-8803-2024-19-1-18-24","DOIUrl":"https://doi.org/10.17650/2073-8803-2024-19-1-18-24","url":null,"abstract":"Background. Remission in general sense means disappearance of signs and symptoms of the disease. The risk of recurrence of seizures is usually evaluated only in terms of the risk of a second unprovoked seizure after the first one or the risk of recurrence of seizures after discontinuation of therapy. There are no studies that assess the probability of achieving a second remission in patients with recurrent seizures.Aim. To develop a tool for assessing the probability of favorable and unfavorable treatment outcomes after recurrent seizures in adult patients with different forms of epilepsy.Materials and methods. We analyzed data from 215 patients with recurrent seizures after achieving remission, followed up for 12 or more months, and analyzed disease outcomes.Results and conclusion. At the end of the study, repeat remission was observed in 67 patients, improvement in 48, and no effect in 100. Patients with remission and improvement were combined into a “favorable outcome” group (n = 115), while patients with no effect from therapy formed an “unfavorable outcome” group (n = 100).Patients with an unfavorable outcome were statistically significantly more likely to have factors such as longer disease duration, coexisting serious somatic diseases, structural etiology of epilepsy, bilateral tonic-clonic seizures with focal onset, focal forms of epilepsy, daily seizures, epileptogenic changes on neuroimaging, and regional epileptiform activity on EEG (p <0.05). In turn, patients with a favorable outcome were statistically significantly more likely to have factors such as genetic etiology of epilepsy, generalized tonic-clonic seizures, absences, myoclonic seizures, generalized forms of epilepsy, no pathology on neuroimaging, diffuse epileptiform activity on electroencephalogram, and no pathology on electroencephalogram (p <0.05).Based on the obtained data using the results of constructing contingency tables, a scale for assessing the probability of achieving repeat remission in patients with recurrent epileptic seizures was developed, consisting of 9 sections. To assess the effectiveness of the model, ROC analysis was performed, confirming statistically significant sensitivity and specificity of the obtained scale.Further research is needed to develop more accurate predictors of epilepsy outcomes to understand the peculiarities of the disease pathogenesis.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"59 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140733347","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 : 2024-04-07DOI: 10.17650/2073-8803-2024-19-1-25-40
K. Mukhin, O. Pylaeva, А. V. Мarkin
This review aims to summarize the available evidence on the efficacy and tolerability of sulthiame for different forms of epilepsy. The analysis of international publications suggests that sulthiame is considered as a first-line drug for the treatment of age-dependent epilepsy with central temporal spikes (rolandic epilepsy). Sulthiame is highly effective in children with epileptic encephalopathies manifesting with spike-and-wave activity during sleep, including Landau-Kleffner syndrome, as well as in patients with myoclonic seizures. The drug might be also effective in patients with other forms of focal epilepsy, including those resistant to therapy. The tolerability of sulthiame is higher that that of old antiepileptic drugs and even levetiracetam; thus, it is associated with a lower risk of treatment interruptions due to adverse events. Moreover, sulthiame can be used for behavioral disorders (such as hyperkinetic behavior, aggressiveness) and cognitive impairments. Sulthiame can be effective in patients with epilepsy and sleep apnea.
{"title":"Efficacy and tolerability of sulthiame in the treatment of epilepsy: a literature review","authors":"K. Mukhin, O. Pylaeva, А. V. Мarkin","doi":"10.17650/2073-8803-2024-19-1-25-40","DOIUrl":"https://doi.org/10.17650/2073-8803-2024-19-1-25-40","url":null,"abstract":"This review aims to summarize the available evidence on the efficacy and tolerability of sulthiame for different forms of epilepsy. The analysis of international publications suggests that sulthiame is considered as a first-line drug for the treatment of age-dependent epilepsy with central temporal spikes (rolandic epilepsy). Sulthiame is highly effective in children with epileptic encephalopathies manifesting with spike-and-wave activity during sleep, including Landau-Kleffner syndrome, as well as in patients with myoclonic seizures. The drug might be also effective in patients with other forms of focal epilepsy, including those resistant to therapy. The tolerability of sulthiame is higher that that of old antiepileptic drugs and even levetiracetam; thus, it is associated with a lower risk of treatment interruptions due to adverse events. Moreover, sulthiame can be used for behavioral disorders (such as hyperkinetic behavior, aggressiveness) and cognitive impairments. Sulthiame can be effective in patients with epilepsy and sleep apnea.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"50 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140733740","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 : 2024-04-07DOI: 10.17650/2073-8803-2024-19-1-41-47
M. S. Maslov
The article presents a clinical case of epilepsy with electrical status epilepticus during slow-wave sleep, the example of which shows the relevance of the issue of timely diagnosis and prescription of adequate anti-epileptic therapy in this syndrome. The role of regular electroencephalographic sleep monitoring in order to monitor the effectiveness of therapeutic measures is emphasized, and the main difficulties in making this diagnosis and choosing the correct anti-epileptic treatment are shown.
{"title":"Pharmacoresistant epilepsy with electrical status epilepticus during slow-wave sleep: a clinical case","authors":"M. S. Maslov","doi":"10.17650/2073-8803-2024-19-1-41-47","DOIUrl":"https://doi.org/10.17650/2073-8803-2024-19-1-41-47","url":null,"abstract":"The article presents a clinical case of epilepsy with electrical status epilepticus during slow-wave sleep, the example of which shows the relevance of the issue of timely diagnosis and prescription of adequate anti-epileptic therapy in this syndrome. The role of regular electroencephalographic sleep monitoring in order to monitor the effectiveness of therapeutic measures is emphasized, and the main difficulties in making this diagnosis and choosing the correct anti-epileptic treatment are shown.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"2 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140733261","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 : 2024-01-03DOI: 10.17650/2073-8803-2023-18-4-44-48
A. A. Kondratov, A. S. Kotov
For more than two hundred years after its discovery, nitric oxide (I) has been widely used in medicine as an anesthetic, in the car industry as an engine performance enhancer, in the food industry as a preservative, and, unfortunately, among young people as a mild narcotic substance. Despite the widespread opinion that there is no harm from the use of “laughing gas” for recreational purposes, in the literature and in practice, there are a lot of cases when patients suffer from various complications, including neurological ones, caused precisely by the use of nitric oxide (I). One of the main mechanisms of the pathological effects of nitrous oxide on the nervous tissue is the inactivation of vitamin B12. This has been proven by studying the physicochemical properties of the gas, the effect on the organisms of laboratory animals, the change in the concentration of certain substances in the human body, and also by the use of cyanocobalamin for the treatment of these patients. This article describes a clinical case of the development of myelopolyneuropathy caused by the toxic effects of nitric oxide (I).
{"title":"Subacute combined degeneration of the spinal cord of toxic etiology (clinical case)","authors":"A. A. Kondratov, A. S. Kotov","doi":"10.17650/2073-8803-2023-18-4-44-48","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-4-44-48","url":null,"abstract":"For more than two hundred years after its discovery, nitric oxide (I) has been widely used in medicine as an anesthetic, in the car industry as an engine performance enhancer, in the food industry as a preservative, and, unfortunately, among young people as a mild narcotic substance. Despite the widespread opinion that there is no harm from the use of “laughing gas” for recreational purposes, in the literature and in practice, there are a lot of cases when patients suffer from various complications, including neurological ones, caused precisely by the use of nitric oxide (I). One of the main mechanisms of the pathological effects of nitrous oxide on the nervous tissue is the inactivation of vitamin B12. This has been proven by studying the physicochemical properties of the gas, the effect on the organisms of laboratory animals, the change in the concentration of certain substances in the human body, and also by the use of cyanocobalamin for the treatment of these patients. This article describes a clinical case of the development of myelopolyneuropathy caused by the toxic effects of nitric oxide (I).","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"3 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139536275","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 : 2024-01-03DOI: 10.17650/2073-8803-2023-18-4-36-43
K. Mukhin, O. Pylaeva
Despite significant advances made in epileptology, treatment-resistant epilepsy accounts for approximately 30 % of all forms of this disease. Such diseases include, among others, Lennox–Gastaut syndrome – a classic developmental and epileptic encephalopathy with onset in childhood, characterized by resistance to therapy, severe course and poor prognosis. For patients in this category, the search for new effective antiepileptic drugs remains highly relevant, especially in cases where numerous combinations of antiepileptic drugs do not produce an effect, surgical treatment is impossible, and alternative methods (vagus nerve stimulation and ketogenic diet) are ineffective. The authors present a review of the literature on the modern definition and diagnostic criteria of Lennox–Gastaut syndrome, diagnostic methods and treatment of this form of epilepsy, which has a severe course and a generally unfavorable prognosis.
{"title":"The modern approaches to the diagnostics and treatment of Lennox–Gastaut syndrome (literature review)","authors":"K. Mukhin, O. Pylaeva","doi":"10.17650/2073-8803-2023-18-4-36-43","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-4-36-43","url":null,"abstract":"Despite significant advances made in epileptology, treatment-resistant epilepsy accounts for approximately 30 % of all forms of this disease. Such diseases include, among others, Lennox–Gastaut syndrome – a classic developmental and epileptic encephalopathy with onset in childhood, characterized by resistance to therapy, severe course and poor prognosis. For patients in this category, the search for new effective antiepileptic drugs remains highly relevant, especially in cases where numerous combinations of antiepileptic drugs do not produce an effect, surgical treatment is impossible, and alternative methods (vagus nerve stimulation and ketogenic diet) are ineffective. The authors present a review of the literature on the modern definition and diagnostic criteria of Lennox–Gastaut syndrome, diagnostic methods and treatment of this form of epilepsy, which has a severe course and a generally unfavorable prognosis.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"8 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139536465","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 : 2024-01-03DOI: 10.17650/2073-8803-2023-18-4-8-25
K. Mukhin, O. Pylaeva, M. Bobylova, L. Y. Glukhova, N. V. Freydkova
Background. Lennox–Gastaut syndrome (LGS) is a classic developmental and epileptic encephalopathy with a debut in childhood, characterized by resistance to therapy, a severe course, and an unfavorable prognosis. Due to the existing difficulties in treatment of LGS, hopes are pinned on development of new antiepileptic drugs with fundamentally different mechanisms of action, aimed specifically at the treatment of this severe form of epilepsy.Rufinamide (Inovelon®) is a new antiepileptic drug registered in the Russian Federation for use in the adjunctive therapy of LGS in patients older than 1 year. The main mechanism of action of rufinamide is the restriction of neuronal discharges associated with the blocking effect on sodium channels (regulation of sodium channels activity by increasing duration of their inactive state), and stabilization of neuronal membranes. The drug has a number of advantages concernung pharmacokinetic parameters and efficacy (including a wide spectrum of antiepileptic activity, good oral absorption, absence of active metabolites, urinary excretion, low affinity for plasma proteins, biotransformation without cytochrome P450 isoenzymes, low risk of drug interactions) and fairly good tolerability. The daily dose of rufinamide varies from 600 mg (with simultaneous administration of valproate) to 1000 mg (if the patient does not take valproate) in children over 4 years of age with a body weight of less than 30 kg and up to 2200–3200 mg in children over 4 years of age with a body weight of more than 30 kg and in adults; in children under 4 years of age, the maximum daily dose in combination with valproate is 30 mg/kg, and without valproic acid – 45 mg/kg.Aim. To analyze the efficacy and tolerability of rufinamide in the treatment of epilepsy based on the long-term experience of using the drug in the Svt. Luka’s Association of Medical Institutions.Materials and methods. We observed 64 patients aged from 1.5 to 26 years (44 men, 20 women) treated with rufinamide (Inovelon®). Among them, the structural etiology LGS was diagnosed in 36 patients, the genetic and presumably genetic etiology LGS – in 28. In all cases, rufinamide was used in accordance with approved indications as an additional antiepileptic drug, more often in combination with valproate, topiramate, levetiracetam or lamotrigine. Titration of the drug was carried out according to the recommendations in the instructions for use, up to a therapeutic dose that ranged from 200 to 1600 mg/day (in most cases from 400 to 1200 mg/day), depending on age and concomitant therapy.Results and conclusion. Remission of all types of seizures was registered in 17 (26.6 %) patients, and a decrease in the incidence of seizures by more than 50 % was recorded in 28 (43.8 %) patients. Of them, 13 patients demonstrated reduction in seizures frequency by more than 75–90 % and remission of one of several types of seizures. In general, the therapeutic effect (reduction of seizures frequency by at
{"title":"Efficacy and tolerability of rufinamide in the treatment of Lennox–Gastaut syndrome (experience of the Svt. Luka’s Association of Medical Institutions)","authors":"K. Mukhin, O. Pylaeva, M. Bobylova, L. Y. Glukhova, N. V. Freydkova","doi":"10.17650/2073-8803-2023-18-4-8-25","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-4-8-25","url":null,"abstract":"Background. Lennox–Gastaut syndrome (LGS) is a classic developmental and epileptic encephalopathy with a debut in childhood, characterized by resistance to therapy, a severe course, and an unfavorable prognosis. Due to the existing difficulties in treatment of LGS, hopes are pinned on development of new antiepileptic drugs with fundamentally different mechanisms of action, aimed specifically at the treatment of this severe form of epilepsy.Rufinamide (Inovelon®) is a new antiepileptic drug registered in the Russian Federation for use in the adjunctive therapy of LGS in patients older than 1 year. The main mechanism of action of rufinamide is the restriction of neuronal discharges associated with the blocking effect on sodium channels (regulation of sodium channels activity by increasing duration of their inactive state), and stabilization of neuronal membranes. The drug has a number of advantages concernung pharmacokinetic parameters and efficacy (including a wide spectrum of antiepileptic activity, good oral absorption, absence of active metabolites, urinary excretion, low affinity for plasma proteins, biotransformation without cytochrome P450 isoenzymes, low risk of drug interactions) and fairly good tolerability. The daily dose of rufinamide varies from 600 mg (with simultaneous administration of valproate) to 1000 mg (if the patient does not take valproate) in children over 4 years of age with a body weight of less than 30 kg and up to 2200–3200 mg in children over 4 years of age with a body weight of more than 30 kg and in adults; in children under 4 years of age, the maximum daily dose in combination with valproate is 30 mg/kg, and without valproic acid – 45 mg/kg.Aim. To analyze the efficacy and tolerability of rufinamide in the treatment of epilepsy based on the long-term experience of using the drug in the Svt. Luka’s Association of Medical Institutions.Materials and methods. We observed 64 patients aged from 1.5 to 26 years (44 men, 20 women) treated with rufinamide (Inovelon®). Among them, the structural etiology LGS was diagnosed in 36 patients, the genetic and presumably genetic etiology LGS – in 28. In all cases, rufinamide was used in accordance with approved indications as an additional antiepileptic drug, more often in combination with valproate, topiramate, levetiracetam or lamotrigine. Titration of the drug was carried out according to the recommendations in the instructions for use, up to a therapeutic dose that ranged from 200 to 1600 mg/day (in most cases from 400 to 1200 mg/day), depending on age and concomitant therapy.Results and conclusion. Remission of all types of seizures was registered in 17 (26.6 %) patients, and a decrease in the incidence of seizures by more than 50 % was recorded in 28 (43.8 %) patients. Of them, 13 patients demonstrated reduction in seizures frequency by more than 75–90 % and remission of one of several types of seizures. In general, the therapeutic effect (reduction of seizures frequency by at ","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"61 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139451270","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 : 2024-01-03DOI: 10.17650/2073-8803-2023-18-4-53-57
A. S. Latypov, E. V. Proskurina, S. V. Kotov, O. P. Sidorova, I. A. Vasilenko, D. Kassina, A. S. Kotov
MERRF syndrome (myoclonic epilepsy ragged red fibres) belongs to the group of primary mitochondrial diseases and is characterized by a combination of myoclonic epilepsy and the phenomenon of ragged red fibres on muscle biopsy. The aim of this work is to study mitochondrial disorders in patients from a family with MERRF syndrome by determining the cytochemical activity of mitochondrial enzymes in peripheral blood lymphocytes and the level of lactate in the blood. Clinical cases of a 25-year-old sister and a 19-year-old brother with MERRF syndrome with the m.8344A>G variant in MT-TK (tRNA (Lys)) with a blood heteroplasmy level of 50 % in the sister and homoplasmy in the brother are presented. Mitochondrial disorders were assessed by blood lactate levels and cytochemical studies of mitochondrial enzyme activity in peripheral blood lymphocytes. Pre-prandial blood lactate levels were elevated in both patients. After a carbohydrate load, it increased in the sister, and decreased in the brother. The sister had decreased activity of peripheral blood lymphocyte enzymes while taking levetiracetam, 100 mg of coenzyme Q10 and 100 mg of L-carnitine. The dose of energotropic drugs was increased, which led to an increase in the activity of mitochondrial enzymes. The brother had a compensatory increase in the level of succinate dehydrogenase and a decrease in the activity of other enzymes. The methods we used can be used in clinical practice to diagnose mitochondrial disorders and to adjust the dosage of energotropic drugs, which remain relevant due to the lack of effective gene therapy.
{"title":"Mitochondrial disorders in patients with familial form of MERRF syndrome","authors":"A. S. Latypov, E. V. Proskurina, S. V. Kotov, O. P. Sidorova, I. A. Vasilenko, D. Kassina, A. S. Kotov","doi":"10.17650/2073-8803-2023-18-4-53-57","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-4-53-57","url":null,"abstract":"MERRF syndrome (myoclonic epilepsy ragged red fibres) belongs to the group of primary mitochondrial diseases and is characterized by a combination of myoclonic epilepsy and the phenomenon of ragged red fibres on muscle biopsy. The aim of this work is to study mitochondrial disorders in patients from a family with MERRF syndrome by determining the cytochemical activity of mitochondrial enzymes in peripheral blood lymphocytes and the level of lactate in the blood. Clinical cases of a 25-year-old sister and a 19-year-old brother with MERRF syndrome with the m.8344A>G variant in MT-TK (tRNA (Lys)) with a blood heteroplasmy level of 50 % in the sister and homoplasmy in the brother are presented. Mitochondrial disorders were assessed by blood lactate levels and cytochemical studies of mitochondrial enzyme activity in peripheral blood lymphocytes. Pre-prandial blood lactate levels were elevated in both patients. After a carbohydrate load, it increased in the sister, and decreased in the brother. The sister had decreased activity of peripheral blood lymphocyte enzymes while taking levetiracetam, 100 mg of coenzyme Q10 and 100 mg of L-carnitine. The dose of energotropic drugs was increased, which led to an increase in the activity of mitochondrial enzymes. The brother had a compensatory increase in the level of succinate dehydrogenase and a decrease in the activity of other enzymes. The methods we used can be used in clinical practice to diagnose mitochondrial disorders and to adjust the dosage of energotropic drugs, which remain relevant due to the lack of effective gene therapy.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"13 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139536308","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 : 2024-01-03DOI: 10.17650/2073-8803-2023-18-4-49-52
Е. А. Kulish, V. М. Frolova
Hurst’s disease (acute hemorrhagic leukoencephalitis) is a rare fulminant demyelinating disease of the central nervous system. It was singled out as a separate nosological form in the middle of the 20th century. The etiology is not fully understood. According to statistics, the disease most often occurs after a viral or bacterial infection. Patients have an increase in body temperature up to febrile values, headaches, gastrointestinal disorders, cognitive impairments. When making a diagnosis, they are guided by the results of neuroimaging (computed tomography/magnetic resonance imaging), analysis of cerebrospinal fluid, and brain biopsy. Corticosteroids, acyclovir, antibiotics, immunoglobulins, plasmapheresis are used for treatment. The prognosis in patients with acute hemorrhagic leukoencephalitis is poor.
{"title":"An acute hemorrhagic leukoencephalitis (clinical case)","authors":"Е. А. Kulish, V. М. Frolova","doi":"10.17650/2073-8803-2023-18-4-49-52","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-4-49-52","url":null,"abstract":"Hurst’s disease (acute hemorrhagic leukoencephalitis) is a rare fulminant demyelinating disease of the central nervous system. It was singled out as a separate nosological form in the middle of the 20th century. The etiology is not fully understood. According to statistics, the disease most often occurs after a viral or bacterial infection. Patients have an increase in body temperature up to febrile values, headaches, gastrointestinal disorders, cognitive impairments. When making a diagnosis, they are guided by the results of neuroimaging (computed tomography/magnetic resonance imaging), analysis of cerebrospinal fluid, and brain biopsy. Corticosteroids, acyclovir, antibiotics, immunoglobulins, plasmapheresis are used for treatment. The prognosis in patients with acute hemorrhagic leukoencephalitis is poor.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"52 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139536508","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 : 2024-01-03DOI: 10.17650/2073-8803-2023-18-4-26-35
Zh. L. Malakhova, A. Tynterova, S. V. Korenev, O. A. Tikhonova, L. A. Perminova, S. Botman
Background. Cerebral palsy is the most common cause of childhood disability among diseases of the nervous system, the prevalence of which averages 2.5 cases per 1,000 children.Aim. To identify relevant indicators in relation to the prediction of delayed rates of neuropsychic development in children and the formation of cerebral palsy in children 5–8 years old using mathematical modeling.Materials and methods. The study included 100 patients aged 5–8 years: 79 patients with neurological disorders and deviations in psycho-speech development, 21 patients – comparison group. The examination of children in both groups included: analysis of the child’s life history, analysis of psychomotor development in the first year of life, analysis of morbidity in the first year of life, assessment of psychomotor development at the time of the study, electroneuromyography using stimulation and superficial electroneuromyography, as well as ultrasound examination of the lower leg muscles with assessment of the functional state and muscle density using fibroscan.For statistical processing of the obtained data, descriptive statistics were performed. Determination of the statistical significance of indicators was carried out using the Kolmogorov–Smirnov test for continuously distributed values and Fisher’s exact test for discrete values. One-hot coding was used to represent categorical features. The analysis of the obtained data was carried out using a Python program using the pandas, numpy, scikit-learn, and boruta libraries.Results and conclusion. For children with deviations in neuropsychic development, significant early diagnostic markers are parameters of psychomotor development and neurological status (age when the child began to hold his head, decreased strength of the flexors of the foot and hip, level of walking) and instrumental examination (ultrasound of muscles thighs, electroneuromyography) – changes in the density and parameters of electrical excitability of muscles, which can serve as an early diagnostic sign of the development of motor dysfunction and an indicator for the formation of a trajectory of rehabilitation therapy.
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