Medical Herald of the South of Russia最新文献_第10页

Autoinflammatory disease syndrome of hyperimmunoglobulinemia D 高免疫球蛋白血症自身炎性疾病综合征

Medical Herald of the South of Russia Pub Date : 2022-06-29 DOI: 10.21886/2219-8075-2022-13-2-141-145

T. Somova

{"title":"Autoinflammatory disease syndrome of hyperimmunoglobulinemia D","authors":"T. Somova","doi":"10.21886/2219-8075-2022-13-2-141-145","DOIUrl":"https://doi.org/10.21886/2219-8075-2022-13-2-141-145","url":null,"abstract":"Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out. Results: mevalonate kinase deficiency syndrome (SDMC) is a rare autoinflammatory disease with an autosomal recessive inheritance mechanism. The severity of the disease correlates with the residual activity of the enzyme mevalonate kinase, which is involved in the biosynthesis of cholesterol and isoprenoids, which is necessary for the conversion of mevalonate into the final product. As a result, the body accumulates mevalonic acid, especially high levels of it are found in the urine. A relatively mild SDMC phenotype is distinguished: hyperimmunoglobulinemia syndrome D (first described as HIDS in 1984) and a severe variant – mevalonic aciduria. A little more than 300 patients with SDMC have been described in the world. The disease is manifested by intermittent fever, arthralgia, pharyngitis, cervical lymphadenitis, urticarial rash resembling urticaria, less often vasculitis-like manifestations in the form of petechial-purple elements. Diagnosis is based on the activity of the mevalonate kinase enzyme in the blood or skin cells, biochemical analysis of urine (high numbers of mevalonic acid), as well as genetic confirmation of a mutation in the mevalonate kinase gene. The main principles of therapy for autoinflammatory diseases are the control of clinical symptoms and inflammation in general, as well as the prevention of amyloidosis. Conclusion: if an autoinflammatory process in the body is suspected, it is necessary to conduct a genetic study for timely diagnosis and the appointment of pathogenetic therapy to improve the quality of life and prevent complications.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78574339","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

Autoimmune polyglandular syndrome type 1 自身免疫性多腺综合征1型

Medical Herald of the South of Russia Pub Date : 2022-06-29 DOI: 10.21886/2219-8075-2022-13-2-168-171

T. A. Kiseleva, F. Valeeva, D. L. Ekimovskaya, M. A. Makarov, R. T. Habibullina

引用次数: 0

Features of cardiometabolic disorders in obesity on the example of the children’s population of the Rostov region 以罗斯托夫地区儿童为例，肥胖症中心脏代谢紊乱的特征

Medical Herald of the South of Russia Pub Date : 2022-06-29 DOI: 10.21886/2219-8075-2022-13-2-102-112

O. Bocharova, E. Teplyakova, T. Shkurat, G. V. Karantysh, Alaa Hashim Abd Ali

{"title":"Features of cardiometabolic disorders in obesity on the example of the children’s population of the Rostov region","authors":"O. Bocharova, E. Teplyakova, T. Shkurat, G. V. Karantysh, Alaa Hashim Abd Ali","doi":"10.21886/2219-8075-2022-13-2-102-112","DOIUrl":"https://doi.org/10.21886/2219-8075-2022-13-2-102-112","url":null,"abstract":"Objective: to study the features of the blood lipid profile in obese children and adolescents, depending on the presence of insulin resistance, endothelial dysfunction and minimal diastolic dysfunction of the left ventricle. Materials and methods: the study involved 370 obese children and adolescents from 7 to 17 years of age (the main group) with a body mass index BMI > 30, the control group consisted of 123 children of the same age without obesity. Methods: clinical, paraclinical (biochemical blood test, blood pressure measurement, functional diagnosis of endothelial dysfunction, assessment of minimal diastolic dysfunction). Results: cardiometabolic disorders in obesity in childhood and adolescence are accompanied, first of all, by hypertriglyceridemia, which entails further violations of the lipid profile. There was also a positive correlation between changes in insulin and triglyceride levels in children and adolescents with obesity and endothelial dysfunction, as well as in patients with HOMA IR 3.2 and a combination of endothelial dysfunction and minimal dysfunction. Conclusions: based on the study of the nature of lipid spectrum disorders in obese children and adolescents and the presence of signs of endothelial dysfunction and/or minimal left ventricular dysfunction, it was concluded that obesity at this age is more often accompanied by minimal left ventricular diastolic dysfunction or a combination of endothelial dysfunction and left ventricular dysfunction. The development of insulin resistance leads to an increase in the combined pathology (ED and MDLj). Hypertriglyceridemia, which is associated with high levels of insulin and presumably determines the development of insulin resistance, plays an important role in the development of cardiometabolic disorders in obesity in childhood and adolescence.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87343545","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

Investigation of the infertility structure and outcomes of ART programs in patients of late reproductive age 晚期育龄患者不孕结构及ART治疗效果的调查

Medical Herald of the South of Russia Pub Date : 2022-06-29 DOI: 10.21886/2219-8075-2022-13-2-59-71

K. V. Uryupina, I. I. Kutsenko, E. I. Kravtsovа, I. N. Lukoshkina, O. V. Tomina, L. V. Kaushanskaya

{"title":"Investigation of the infertility structure and outcomes of ART programs in patients of late reproductive age","authors":"K. V. Uryupina, I. I. Kutsenko, E. I. Kravtsovа, I. N. Lukoshkina, O. V. Tomina, L. V. Kaushanskaya","doi":"10.21886/2219-8075-2022-13-2-59-71","DOIUrl":"https://doi.org/10.21886/2219-8075-2022-13-2-59-71","url":null,"abstract":"Purpose: comparative study of the structure of infertility and outcomes of ART programs among patients of different age groups. Materials and methods: the case histories of 180 patients with infertility were studied: Group I ≥ 35 years old; Group II <35 years old. Laboratory and immunohistochemical studies were carried out, and the outcomes of ART were assessed. Results: in group I, a shortened menstrual cycle was determined in comparison with group II (27,15 ± 3,39 days vs 29,57 ± 2,38 days, p = 0,001). Also, in group I, the following were more often found: inflammatory diseases (p = 0,05); history of unilateral tubectomy (p = 0,019); increased FSH levels (9,73 ± 2,43 vs 8,74 ± 2,50); decrease in the concentration of LH, progesterone, AMH (p <0,05). In the cells of the aspirate of the uterine cavity in patients of group I, there was an increased content of progesterone receptors and a decreased concentration of estrogen receptors (p <0,05). Patients of group I received a smaller number of oocytes (8,34 ± 3,51 vs 10,78 ± 4,37) and quality embryos by the 5th day of cultivation (82,7% vs 87,97%; p <0,05). The number of pregnancies in groups I and II was 22,22% and 36,67%, respectively, and live births – 14,44% and 27,78% (p <0,05). Patients who gave birth had increased progesterone levels, greater endometrial thickness, more oocytes with transvaginal puncture, and high-quality embryos. Conclusion: the factors that reduce fertility were: genital pathology, inhibition of ovarian function, depletion of the follicular reserve. Fewer live births are associated with defects in embryonic and implantation factors.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90408031","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

Сurrent status of adrenocortical cancer therapy Сurrent肾上腺皮质癌治疗现状

Medical Herald of the South of Russia Pub Date : 2022-06-29 DOI: 10.21886/2219-8075-2022-13-2-154-161

S. Fogt, V. Kalugina, N. Vorokhobina, A. Kuznetsova, I. P. Serebryakova

引用次数: 0

Modern approaches to the management of gender dysphoria from endocrinologist`s viewpoint: clinical case 从内分泌学家的角度探讨性别焦虑症的现代治疗方法:临床案例

Medical Herald of the South of Russia Pub Date : 2022-06-29 DOI: 10.21886/2219-8075-2022-13-2-162-167

N. Volkova, I. Davidenko, Y. Degtyareva

{"title":"Modern approaches to the management of gender dysphoria from endocrinologist`s viewpoint: clinical case","authors":"N. Volkova, I. Davidenko, Y. Degtyareva","doi":"10.21886/2219-8075-2022-13-2-162-167","DOIUrl":"https://doi.org/10.21886/2219-8075-2022-13-2-162-167","url":null,"abstract":"Providing medical care to people with gender dysphoria is a complex multidisciplinary task, the success of which is determined by the close cooperation of specialists qualified in helping such patients, such as a psychiatrist, endocrinologist, and surgeon. In addition to diagnostic testing, patients with gender dysphoria require psychotherapy or psychological counseling, hormone replacement therapy, and, if necessary, gender confirmation surgery. Before prescribing hormone therapy, it is necessary to make sure that the patient meets the criteria for the diagnosis of gender dysphoria, to be sure that the patient’s desire to change gender is justified, all the consequences of therapy, including possible physical changes and the timing of their occurrence, are explained. Genital reconstruction procedures are possible only after at least one year of hormone therapy and life in the role of the chosen gender. The algorithms of medical care for persons with gender dysphoria developed to date describe in detail the mechanism of gender reassignment, the contribution of various specialists to this process, as well as possible risks and methods for their prevention. Only careful observance of the stages of diagnosis and treatment without violating their sequence can lead to the successful achievement of the result. while any deviations from the algorithms, due to objective and subjective reasons, entail serious life-threatening consequences, which is clearly demonstrated in the clinical cases presented in this article.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91323320","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

Compliance of patients after prosthetics mitral double valve mechanical prostheses 二尖瓣机械假体术后患者的顺应性

Medical Herald of the South of Russia Pub Date : 2022-06-20 DOI: 10.21886/2219-8075-2022-13-2-191-198

M. Markova, O. S. Polunina, D. Tarasov, E. Polunina

{"title":"Compliance of patients after prosthetics mitral double valve mechanical prostheses","authors":"M. Markova, O. S. Polunina, D. Tarasov, E. Polunina","doi":"10.21886/2219-8075-2022-13-2-191-198","DOIUrl":"https://doi.org/10.21886/2219-8075-2022-13-2-191-198","url":null,"abstract":"Objective: to study and compare the influence of such factors as: gender, age, family status, level of education and the frequency of determination of the international normalized ratio (INR) on the compliance of patients after mitral valve replacement (MC) with mechanical prostheses in dynamics - after 6 and 12 months. Materials and methods: it were analyzed data of 260 patients after MC prosthetics with mechanical bicuspid prostheses. The Morisky-Green test was used to assess compliance.Results: the most committed to treatment were female, middle-aged persons with secondary specialized and higher education, as well as married persons. Among patients who monitored INR on a monthly basis, the percentage of compliant patients was higher compared to patients where this indicator was determined less than once a month. The dynamics of a decrease in the number of compliant patients after 12 months of follow-up was established. Conclusions: the data obtained indicate the need to carry out more active work on the formation of compliance with «vulnerable» categories of patients: with men, with elderly and young patients, with persons with secondary education, unmarried. The revealed tendency to decrease compliance after 12 months, regardless of the studied factor, indicates the importance of maintaining compliance in the long-term postoperative period. Also, the data obtained indicate the presence of a relationship between the multiplicity of INR control and compliance.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85244937","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

Myelodysplastic syndrome: epidemiology, diagnostics and epigenetic disorders 骨髓增生异常综合征:流行病学、诊断和表观遗传疾病

Medical Herald of the South of Russia Pub Date : 2022-06-16 DOI: 10.21886/2219-8075-2022-13-2-179-190

P. Lipilkin, E. D. Kulaeva, A. Zeltser, S. Mordanov, Y. Shatokhin

{"title":"Myelodysplastic syndrome: epidemiology, diagnostics and epigenetic disorders","authors":"P. Lipilkin, E. D. Kulaeva, A. Zeltser, S. Mordanov, Y. Shatokhin","doi":"10.21886/2219-8075-2022-13-2-179-190","DOIUrl":"https://doi.org/10.21886/2219-8075-2022-13-2-179-190","url":null,"abstract":"Myelodysplastic syndrome is a group of myeloid neoplasms that arise from the action of damaging factors on hematopoietic stem cells, which are based on somatic mutations, which leads to the formation of clonal hematopoiesis. we know from epidemiological data that old age, male gender, and smoking are in themselves independent risk factors for myelodysplastic syndrome. These factors can potentiate the occurrence of mutations in the genome. In young people and children, myelodysplastic syndrome is a direct consequence of genetic abnormalities. There is an assumption that epigenetic regulatory genes are subject to frequent mutations. The chromatin of malignant cells acquires epigenetic abnormalities affecting tumor resistance, which explains their response to treatment with epigenetic drugs in combination with other therapies The appearance of new mutations potentiates hematopoiesis, which is accompanied by the shutdown of apoptosis and the transformation of myelodysplastic syndrome into acute myeloid leukemia. It is suggested that mutations in the genes of epigenetic regulators have functional effects on pluripotent hemopoietic stem cells. Epigenetic profiling of patients had a significant impact on understanding the molecular basis of etiology, pathogenesis, and patterns of transformation of myelodysplastic syndrome into acute myeloid leukemia, but it is not known which genes are the most clinically significant for their final use in laboratory diagnostics and targeted hypomethylating therapy. Despite the multitude of mutations in epigenetic regulators in myelodysplastic syndrome, the creation of prognostic models based on them requires a detailed study that includes not only analysis of the frequency of such mutations, but also the establishment of a relationship with clinically significant outcomes. The aim of this review is to study the prevalence of the mutational status of epigenetic regulation in patients with myelodysplastic syndrome.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73203387","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

Targeted therapy of bronchial asthma in children 儿童支气管哮喘的靶向治疗

Medical Herald of the South of Russia Pub Date : 2022-06-15 DOI: 10.21886/2219-8075-2022-13-2-134-140

R. Fayzullina, A. Sannikova, Z. Shangareeva, N. T. Absalyamova, Zh.A. Valeeva

{"title":"Targeted therapy of bronchial asthma in children","authors":"R. Fayzullina, A. Sannikova, Z. Shangareeva, N. T. Absalyamova, Zh.A. Valeeva","doi":"10.21886/2219-8075-2022-13-2-134-140","DOIUrl":"https://doi.org/10.21886/2219-8075-2022-13-2-134-140","url":null,"abstract":"Objective: to evaluate the clinical efficacy of targeted therapy with omalizumab in children with moderate to severe uncontrolled bronchial asthma. Materials and methods: 7 children receiving omalizumab therapy in a hospital and polyclinic of the Ufa City Children’s Clinical Hospital No. 17 were under observation. In accordance with the instructions for use, the monoclonal antibody drug omalizumab was administered subcutaneously every 2-4 weeks. The dosage of the drug was determined based on the child’s body weight and the initial level of serum IgE. The anamnesis of life and disease, the results of instrumental and laboratory research methods, the results of AST and c-AST tests were studied in all the children studied. Results: against the background of therapy with omalizumab in children, there was a significant decrease in the frequency of daytime symptoms (p=0.0179), a decrease in the frequency of night symptoms (p=0.0233), increased physical activity (p=0.0179), a decrease in the need for bronchodilators (p=0.0179), an increase in FEV1 according to spirography (p=0.0431), a decrease in the volume of basic anti-inflammatory therapy with a decrease in the dose of IGCS in 71.43% of patients (p=0.0425), a significant increase in the number of AST and c–AST test scores: before treatment 12 [10; 13] points, against the background of treatment - 23 [20; 25] points, (p=0.0277). During the follow-up period of therapy with omalizumab, no serious adverse reactions were detected. Conclusion: thus, targeted therapy using omalizumab is clinically effective in children with moderate to severe uncontrolled bronchial asthma.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78460905","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

Prediction injury of the central nervous system in the neonatal period in preterm newborns 早产儿新生儿期中枢神经系统损伤的预测

Medical Herald of the South of Russia Pub Date : 2022-06-15 DOI: 10.21886/2219-8075-2022-13-2-122-133

E. Pavlinova, A. A. Gubich, O. Savchenko

{"title":"Prediction injury of the central nervous system in the neonatal period in preterm newborns","authors":"E. Pavlinova, A. A. Gubich, O. Savchenko","doi":"10.21886/2219-8075-2022-13-2-122-133","DOIUrl":"https://doi.org/10.21886/2219-8075-2022-13-2-122-133","url":null,"abstract":"Objective: to develop a system for predicting the probability of developing damage of the central nervoussystem (CNS) in the neonatal period in children who was born prematurely. Materials and methods: the main group of the study is premature newborns with gestational age (GA) less than 36 weeks inclusive (n = 60), the control group – fullterm newborns (n = 35). In the process of dynamic observation, the main group was divided into subgroups depending on the diagnosed CNS injury in the neonatal period, according to the neurosonography (intraventricular hemorrhages (IVH), periventricular leukomalacia (PVL): subgroup 1 (prematurity babies with CNS injury) – 25 people, subgroup 2 (premature babies without CNS injury) – 35 people. we estimated clinical and anamnestic, laboratory and instrumental data of children at birth and in dynamics, indicators of antioxidant protection (manganese-containing superoxide dismutase (Mn-SOD), copper, zinc-containing superoxide dismutase (Cu, Zn-SOD), reduced glutathione (GSH), oxidized glutathione (GSSG), total antioxidant capacity of blood (TAS/TAC), oxidative stress (TOS/TOC), 4 polymorphisms of Mn-SOD gene. Results: we designed two prognostic models which can determine the probability of developing IVH and PVL in the neonatal period in premature newborns. This models are included GA, Apgar scores at 1 and 5 minutes of life, presence of respiratory failure at birth, invasive mechanical ventilation in the neonatal period, presence of intrauterine infection in the neonatal period and indicators of antioxidant protection (GSH, TAS/TAC; model 2). Conclusions: a comprehensive assessment of the clinical and anamnestic data of premature newborns at birth, as well as the determination of indicators that take into account the level of antioxidant protection, will make it possible to identify a premature baby at the risk for organic injury of the CNS and to correct the therapeutic strategies in the neonatal period.","PeriodicalId":18314,"journal":{"name":"Medical Herald of the South of Russia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79146367","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