Sechenov Medical Journal最新文献_第4页

Hemimegalencephaly associated with drug-resistant epilepsy and a rare molecular genetic alteration in the CPA6 gene: a clinical case 半巨脑畸形与耐药癫痫和罕见的CPA6基因分子遗传改变相关:1例临床病例

Sechenov Medical Journal Pub Date : 2022-12-07 DOI: 10.47093/2218-7332.2022.13.2.4-11

D. Murzaeva, D. Sitovskaya, K. A. Sultygova, D. D. Sabanchieva, M. A. Kiseleva, O. Verbitskiy, Y. Zabrodskaya

{"title":"Hemimegalencephaly associated with drug-resistant epilepsy and a rare molecular genetic alteration in the CPA6 gene: a clinical case","authors":"D. Murzaeva, D. Sitovskaya, K. A. Sultygova, D. D. Sabanchieva, M. A. Kiseleva, O. Verbitskiy, Y. Zabrodskaya","doi":"10.47093/2218-7332.2022.13.2.4-11","DOIUrl":"https://doi.org/10.47093/2218-7332.2022.13.2.4-11","url":null,"abstract":"Hemimegalencephaly (HME) is one of the extremely rare congenital malformations of cortical development (MCD). It belongs to the MCD group of mTOR-related pathologies and can be the result of various genetic disorders. One of the main clinical manifestations of HME is drug-resistant epilepsy requiring surgical treatment.Case report. This article describes a clinical case of HME in a 4-year-old boy with frequent generalized tonic-clonic seizures and drug-resistant epilepsy; also, he had speech development delay. MRI revealed a HME of the right frontal lobe. Stereotaxic laser disconnection of the large cortical dysplasia in the right frontal lobe of the brain was performed. Morphological features of focal cortical dysplasia type IIb (FCD IIb) were reported. No seizures were observed in the hospital follow up after the operation for 14 days. The whole exome DNA sequencing showed the presence of a heterozygous state _000008.10^G 68419028del / 633del, pGlu212LysfsTers of the CPA6 gene.Discussion. A feature of the case is the identiﬁed association of HME, morphologically represented by FCD IIb, with a previously unknown heterozygous state in the 6th exon of the CPA6 gene. This association allows to expand our understanding of changes in the activation of PI3K/AKT/mTOR pathway as a key link in the pathogenesis of congenital anomaly of cortical development.","PeriodicalId":129151,"journal":{"name":"Sechenov Medical Journal","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125759779","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}

引用次数: 0

Retraction of the article “A clinical case: virus encephalitis” 文章《1例病毒性脑炎》的撤回

Sechenov Medical Journal Pub Date : 2022-12-07 DOI: 10.47093/2218-7332.2022.13.2.40-40

A. Editorial

引用次数: 0

Sechenov Medical Journal Pub Date : 2022-12-07 DOI: 10.47093/2218-7332.2022.13.2.20-29

V. Kudryavtseva, A. V. Moiseeva, S. Mukhamedova, G. Piavchenko, S. Kuznetsov

{"title":"Age- and sex-related dynamics of structural and functional motor behavior interactions in striatum neurons in rats","authors":"V. Kudryavtseva, A. V. Moiseeva, S. Mukhamedova, G. Piavchenko, S. Kuznetsov","doi":"10.47093/2218-7332.2022.13.2.20-29","DOIUrl":"https://doi.org/10.47093/2218-7332.2022.13.2.20-29","url":null,"abstract":"Aim. To study the age-related dynamics of structural and functional interactions of striatal neurons in the implementation of acts of motor behaviour in rats of both sexes.Materials and methods. The study was carried out on 36 Wistar rats of both sexes aged 2, 7 and 16 months (n = 6 per group). In animals of all groups, locomotor activity was determined using a Laboras device (Metris, the Netherlands) for15 minutes, after which the brain was sampled to determine the number and size of neurons in the striatum. The median and interquartile range of the index of motor activity and the number of neurons were determined, and to study the relationship between these indicators, a correlation and regression analysis was performed with the construction of linear and polynomial trends, and the coefﬁcient of determination R2 was calculated.Results. The size of neurons did not change signiﬁcantly with age in the rats of both sexes. The number of neurons differed statistically in the rats of different sexes in all age groups. In male rats, the maximum number of neurons was noted at the age of 7 months with a decrease to 16 months. In female rats, the maximum number of neurons was recorded at the age of 2 months with a further decrease to 7 and 16 months. According to the regression analysis, a linear strong relationship (R2 =0.80 for males, R2 = 0.79 for females) was established between the number of neurons in the striatum and motor activity in 2-month-old animals. At the age of 7 and 16 months the relationship is non-linear.Conclusion. The number of neurons in the striatum is subject to sex and age dynamics, while their size remains unchanged from 2 to 16 months. For animals of both sexes, a decrease in the role of the striatum in providing motor activity in the process of growing up was noted. This relationship reaches its maximum in 2-month-old rats and then decreases.","PeriodicalId":129151,"journal":{"name":"Sechenov Medical Journal","volume":"254 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123286381","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}

引用次数: 0

Retraction of the article “The biopharmaceutical classiﬁcation of medicinal substances” 《药用物质的生物制药分类》一文的撤回

Sechenov Medical Journal Pub Date : 2022-12-07 DOI: 10.47093/2218-7332.2022.13.2.37-37

A. Editorial

引用次数: 0

Retraction of the article “Evidence of ancient HIV-1 transmission in the Northern Europe. Palaeoepidemiological analysis” 撤回文章“北欧古代HIV-1传播的证据”。Palaeoepidemiological分析”

Sechenov Medical Journal Pub Date : 2022-12-07 DOI: 10.47093/2218-7332.2022.13.2.38-38

A. Editorial

引用次数: 0

Retraction of the article “Anti-relapse chemotherapy in liver echinococcosis” 《肝包虫病抗复发化疗》一文的撤回

Sechenov Medical Journal Pub Date : 2022-12-07 DOI: 10.47093/2218-7332.2022.13.2.39-39

A. Editorial

引用次数: 0

Retraction of the article “The modern approach to breastfeeding: epidemiology and its importance for moternal and child wellbeing from the public health prospective (A Review of the Lancet Breastfeeding Series)” 撤回文章《母乳喂养的现代方法:流行病学及其从公共卫生角度对母婴健康的重要性》(《柳叶刀》母乳喂养系列综述)

Sechenov Medical Journal Pub Date : 2022-12-07 DOI: 10.47093/2218-7332.2022.13.2.35-35

A. Editorial

引用次数: 0

Stereotactic biopsy and laser ablation of the ganglioglioma using a thulium laser: a video case report 用铥激光立体定向活检和激光消融神经节胶质瘤:一个视频病例报告

Sechenov Medical Journal Pub Date : 2022-11-10 DOI: 10.47093/2218-7332.2022.471.10

A. Sufianov, I. S. Shelyagin, R. Sufianov

引用次数: 1

Creatine phosphate preconditioning reduces ischemiareperfusion injury in isolated rat heart 磷酸肌酸预处理可减轻离体大鼠心脏缺血再灌注损伤

Sechenov Medical Journal Pub Date : 2022-10-06 DOI: 10.47093/2218-7332.2022.13.1.24-33

L. A. Gadjieva, S. Bolevich, V. Jakovlevich, I. A. Omarov, H. A. Ordashev, M. Kartashova

{"title":"Creatine phosphate preconditioning reduces ischemiareperfusion injury in isolated rat heart","authors":"L. A. Gadjieva, S. Bolevich, V. Jakovlevich, I. A. Omarov, H. A. Ordashev, M. Kartashova","doi":"10.47093/2218-7332.2022.13.1.24-33","DOIUrl":"https://doi.org/10.47093/2218-7332.2022.13.1.24-33","url":null,"abstract":"Aim. To study the effect of simultaneous administration of creatine phosphate immediately before ischemia on cardiodynamic parameters and biomarkers of oxidative stress in the coronary venous blood flow during retrograde perfusion in an isolated rat heart.Materials and methods. 20 Wistar albino rats were divided into 2 groups: group 1 (control) and group 2 (experimental), 10 rats per group. Cannulation and retrograde perfusion of aorta of an isolated rat heart with Krebs–Henseleit buffered solution by Landendorff was performed. Both groups underwent ischemia-reperfusion injury, which included global ischemia for 20 minutes followed by reperfusion for 30 minutes. The group 2 (experimental) was preconditioned with creatine phosphate at a dose of 0.2 mmol/l for 5 min before ischemia. We registered cardiodynamic parameters and indicators of oxidative stress at the point of stabilization, at the 1st and 30th minutes of reperfusion.Results. With the impact of creatine phosphate at the 30th minute of reperfusion in the group 2 in comparison with group 1, there was found an increase in the maximum and minimum speed of pressure elevation in the left ventricle (1.7 and 1.9 times, respectively), and of systolic and diastolic pressure in the left ventricle (1.5 and 1.6 times, respectively). Biomarkers of oxidative stress (lipid peroxidation index, nitrites, superoxide anion radical and hydrogen peroxide) were also statistically significantly lower in the group 2 after the 1st minute of reperfusion (by 1.2 times, by 1.4 times, by 2.8 times and 1.9 times, respectively), and after the 30th minute (1.3 times, 2.1 times, 1.9 times and 2.1 times, respectively).Conclusion. The administration of creatine phosphate into the coronary flow 5 minutes before the onset of ischemia has a protective effect on myocardial contractility. Reduction of oxidative stress and damage can be considered as a protective effect of creatine phosphate.","PeriodicalId":129151,"journal":{"name":"Sechenov Medical Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129550981","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}

引用次数: 1

Retraction of the article “Epidemiology as a prophilactic discipline in contemporary medicine” 撤回文章《流行病学作为当代医学中的一门性学学科》

Sechenov Medical Journal Pub Date : 2022-10-06 DOI: 10.47093/2218-7332.2022.13.1.63-63

A. Editorial

引用次数: 0