Pub Date : 2022-06-29DOI: 10.21886/2219-8075-2022-13-2-141-145
T. Somova
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.
{"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}
Pub Date : 2022-06-29DOI: 10.21886/2219-8075-2022-13-2-168-171
T. A. Kiseleva, F. Valeeva, D. L. Ekimovskaya, M. A. Makarov, R. T. Habibullina
Type 1 autoimmune polyglandular syndrome (APS1) is a rare disease, with an unknown prevalence in the Russian population. Due to the low awareness of doctors, it takes more time to make the accurate diagnosis and provide correct medical care. This article describes classical features of APS1 and a clinical case of a patient, who did not have one of the most common first manifestation of the disease - mucocutaneous candidiasis. Hypocalcemia was detected much later than the first clinical manifestations in the form of generalized seizures occurred. Patient also suffers from tapetoretinal abiotrophy, he completely lost vision in childhood which made it difficult for the doctor and patient to interact in the treatment of the disease.
{"title":"Autoimmune polyglandular syndrome type 1","authors":"T. A. Kiseleva, F. Valeeva, D. L. Ekimovskaya, M. A. Makarov, R. T. Habibullina","doi":"10.21886/2219-8075-2022-13-2-168-171","DOIUrl":"https://doi.org/10.21886/2219-8075-2022-13-2-168-171","url":null,"abstract":"Type 1 autoimmune polyglandular syndrome (APS1) is a rare disease, with an unknown prevalence in the Russian population. Due to the low awareness of doctors, it takes more time to make the accurate diagnosis and provide correct medical care. This article describes classical features of APS1 and a clinical case of a patient, who did not have one of the most common first manifestation of the disease - mucocutaneous candidiasis. Hypocalcemia was detected much later than the first clinical manifestations in the form of generalized seizures occurred. Patient also suffers from tapetoretinal abiotrophy, he completely lost vision in childhood which made it difficult for the doctor and patient to interact in the treatment of the disease.","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":"89636846","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 : 2022-06-29DOI: 10.21886/2219-8075-2022-13-2-102-112
O. Bocharova, E. Teplyakova, T. Shkurat, G. V. Karantysh, Alaa Hashim Abd Ali
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.
目的:研究肥胖儿童和青少年胰岛素抵抗、内皮功能障碍和左心室最小舒张功能障碍的血脂特征。材料与方法:研究纳入体重指数BMI > 30的7 ~ 17岁肥胖儿童青少年370例(主要组)，对照组123例同龄非肥胖儿童。方法:临床、临床旁(血液生化检查、血压测量、内皮功能障碍的功能诊断、最小舒张功能障碍评估)。结果:儿童和青少年肥胖的心脏代谢紊乱首先伴随着高甘油三酯血症，这进一步破坏了脂质谱。在肥胖和内皮功能障碍的儿童和青少年中，以及在HOMA IR 3.2和内皮功能障碍和轻度功能障碍合并的患者中，胰岛素和甘油三酯水平的变化也存在正相关。结论:基于对肥胖儿童和青少年脂质谱紊乱的性质以及内皮功能障碍和/或轻微左心室功能障碍迹象的研究，得出结论:该年龄段的肥胖更常伴有轻微左心室舒张功能障碍或内皮功能障碍和左心室功能障碍的合并。胰岛素抵抗的发展导致合并病理(ED和MDLj)的增加。高甘油三酯血症与高胰岛素水平相关，可能决定了胰岛素抵抗的发展，在儿童和青少年肥胖的心脏代谢障碍的发展中起着重要作用。
{"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}
Pub Date : 2022-06-29DOI: 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
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.
目的:比较不同年龄组不孕患者的结构和ART治疗的效果。材料与方法:对180例不孕症患者的病史进行分析:ⅰ组年龄≥35岁;II组<35岁。进行了实验室和免疫组织化学研究，并评估了ART的结果。结果:I组患者月经周期明显缩短(27.15±3.39天vs 29.57±2.38天，p = 0.001)。此外，在I组中，更常发现以下疾病:炎症性疾病(p = 0.05);单侧输卵管切除史(p = 0.019);FSH水平升高(9,73±2,43 vs 8,74±2,50);LH、黄体酮、AMH浓度降低(p < 0.05)。ⅰ组患者子宫腔吸液细胞中孕酮受体含量升高，雌激素受体浓度降低(p < 0.05)。1组患者在培养第5天获得的卵母细胞数量较少(8,34±3,51 vs 10,78±4,37)，胚胎质量较好(82,7% vs 87,97%;p < 0 05)。ⅰ组和ⅱ组妊娠率分别为22.22%和36.67%，活产率分别为14.44%和27.78% (p < 0.05)。分娩的患者黄体酮水平升高，子宫内膜厚度增大，经阴道穿刺的卵母细胞增多，胚胎质量高。结论:生殖器官病变、卵巢功能抑制、卵泡储备衰竭是导致生育能力下降的因素。较少的活产与胚胎和植入因素的缺陷有关。
{"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}
Pub Date : 2022-06-29DOI: 10.21886/2219-8075-2022-13-2-154-161
S. Fogt, V. Kalugina, N. Vorokhobina, A. Kuznetsova, I. P. Serebryakova
Adrenocarcinoma is a rare adrenal disease with an unfavorable prognosis. Adrenocortical cancer therapy is characterized by insufficient effectiveness. This review covers the generally accepted adrenocortical carcinoma therapy methods -mitotane alone or in combination with chemotherapeutic agents. It also provides perspectives from the novel agents` studies in adrenocarcinoma patients. Information about the use of insulin-like growth factor inhibitors, multikinase inhibitors, anti-PD-1/PD-L1 is given.
{"title":"Сurrent status of adrenocortical cancer therapy","authors":"S. Fogt, V. Kalugina, N. Vorokhobina, A. Kuznetsova, I. P. Serebryakova","doi":"10.21886/2219-8075-2022-13-2-154-161","DOIUrl":"https://doi.org/10.21886/2219-8075-2022-13-2-154-161","url":null,"abstract":"Adrenocarcinoma is a rare adrenal disease with an unfavorable prognosis. Adrenocortical cancer therapy is characterized by insufficient effectiveness. This review covers the generally accepted adrenocortical carcinoma therapy methods -mitotane alone or in combination with chemotherapeutic agents. It also provides perspectives from the novel agents` studies in adrenocarcinoma patients. Information about the use of insulin-like growth factor inhibitors, multikinase inhibitors, anti-PD-1/PD-L1 is given.","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":"82969373","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 : 2022-06-29DOI: 10.21886/2219-8075-2022-13-2-162-167
N. Volkova, I. Davidenko, Y. Degtyareva
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.
{"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}
Pub Date : 2022-06-20DOI: 10.21886/2219-8075-2022-13-2-191-198
M. Markova, O. S. Polunina, D. Tarasov, E. Polunina
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.
{"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}
Pub Date : 2022-06-16DOI: 10.21886/2219-8075-2022-13-2-179-190
P. Lipilkin, E. D. Kulaeva, A. Zeltser, S. Mordanov, Y. Shatokhin
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.
{"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}
Pub Date : 2022-06-15DOI: 10.21886/2219-8075-2022-13-2-134-140
R. Fayzullina, A. Sannikova, Z. Shangareeva, N. T. Absalyamova, Zh.A. Valeeva
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.
{"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}
Pub Date : 2022-06-15DOI: 10.21886/2219-8075-2022-13-2-122-133
E. Pavlinova, A. A. Gubich, O. Savchenko
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.
{"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}
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