Pub Date : 2024-06-14DOI: 10.14412/1996-7012-2024-3-32-43
A. Lila, I. Z. Gaydukova, O. Anoshenkova, I. G. Bannikova, I. B. Vinogradova, M. L. Goldman, S. Davidian, L. Evstigneeva, O. Epifanova, E. Zemerova, A. Zagrebneva, L. V. Ivanova, A. K. Karibova, I. Menshikova, O. Mironenko, M. P. Mikhailova, N. E. Nikulenkova, I. Patrikeeva, T. Plaksina, G. R. Savvina, R. Samigullina, L. E. Sarantseva, J. V. Usacheva, O. Ukhanova, G. F. Fatkhullina, A. Chudinov, I. Shafieva, S. Yakupova
The efficacy and safety of levilimab (LVL) in patients with active rheumatoid arthritis (RA) has been confirmed in controlled clinical trials. This article presents the results of a preliminary analysis of a non-interventional observational study of LVL in RA patients. Objective: to evaluate the efficacy and safety of LVL in the treatment of patients with RA in real-world clinical practice. Materials and methods. The HELIOS study is a retrospective-prospective, multicenter, non-interventional study of retention rate of LVL therapy and the safety of LVL in patients with RA in real-world clinical practice. Patients received medical care, including LVL, according to routine clinical practice for the treatment of RA and Russian instructions for medical use of the drug. This article presents the results of an analysis of the efficacy and safety of LVL after 12 and 24 weeks of treatment. Efficacy was assessed using the DAS28-CRP/ESR, SDAI, CDAI and patient assessment of pain, fatigue and morning stiffness according to VAS (0–100 mm). Results and discussion. 524 patients from 42 medical centers in the Russian Federation were enrolled in the study from June 2022 to November 2023. The majority of patients were female (83.2 %) and the mean age of patients was 53 years. A statistically significant decrease in DAS28-CRP/ESR, SDAI, CDAI, patient assessment of pain, fatigue and morning stiffness (VAS) was observed after 12 and 24 weeks of treatment, regardless of previous treatment with biologics or Jak inhibitors (JAKi). LVL was well tolerated by patients, the most frequently reported adverse events were infections, changes in peripheral blood and laboratory abnormalities characteristic of treatment with IL-6R inhibitors. Conclusion. In real-world clinical practice, LVL has been shown to be highly effective and well tolerated in patients with RA when prescribed as the first biologic disease-modifying antirheaumatic drus (bDMARD) and after switching from other bDMARDs or JAKi.
{"title":"Efficacy and safety of levilimab in the treatment of rheumatoid arthritis in real-life clinical practice: first results of the HELIOS observational study","authors":"A. Lila, I. Z. Gaydukova, O. Anoshenkova, I. G. Bannikova, I. B. Vinogradova, M. L. Goldman, S. Davidian, L. Evstigneeva, O. Epifanova, E. Zemerova, A. Zagrebneva, L. V. Ivanova, A. K. Karibova, I. Menshikova, O. Mironenko, M. P. Mikhailova, N. E. Nikulenkova, I. Patrikeeva, T. Plaksina, G. R. Savvina, R. Samigullina, L. E. Sarantseva, J. V. Usacheva, O. Ukhanova, G. F. Fatkhullina, A. Chudinov, I. Shafieva, S. Yakupova","doi":"10.14412/1996-7012-2024-3-32-43","DOIUrl":"https://doi.org/10.14412/1996-7012-2024-3-32-43","url":null,"abstract":" The efficacy and safety of levilimab (LVL) in patients with active rheumatoid arthritis (RA) has been confirmed in controlled clinical trials. This article presents the results of a preliminary analysis of a non-interventional observational study of LVL in RA patients. Objective: to evaluate the efficacy and safety of LVL in the treatment of patients with RA in real-world clinical practice. Materials and methods. The HELIOS study is a retrospective-prospective, multicenter, non-interventional study of retention rate of LVL therapy and the safety of LVL in patients with RA in real-world clinical practice. Patients received medical care, including LVL, according to routine clinical practice for the treatment of RA and Russian instructions for medical use of the drug. This article presents the results of an analysis of the efficacy and safety of LVL after 12 and 24 weeks of treatment. Efficacy was assessed using the DAS28-CRP/ESR, SDAI, CDAI and patient assessment of pain, fatigue and morning stiffness according to VAS (0–100 mm). Results and discussion. 524 patients from 42 medical centers in the Russian Federation were enrolled in the study from June 2022 to November 2023. The majority of patients were female (83.2 %) and the mean age of patients was 53 years. A statistically significant decrease in DAS28-CRP/ESR, SDAI, CDAI, patient assessment of pain, fatigue and morning stiffness (VAS) was observed after 12 and 24 weeks of treatment, regardless of previous treatment with biologics or Jak inhibitors (JAKi). LVL was well tolerated by patients, the most frequently reported adverse events were infections, changes in peripheral blood and laboratory abnormalities characteristic of treatment with IL-6R inhibitors. Conclusion. In real-world clinical practice, LVL has been shown to be highly effective and well tolerated in patients with RA when prescribed as the first biologic disease-modifying antirheaumatic drus (bDMARD) and after switching from other bDMARDs or JAKi.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"54 24","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141339287","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 : 2024-06-13DOI: 10.14412/1996-7012-2024-3-7-13
B. Belov, G. Tarasova, N. V. Muravyova
The problem of infective endocarditis (IE) remains relevant due to the high mortality rate and the development of severe complications. IE is a polyetiological disease, the occurrence and development of which can be caused by an extremely extensive list of pathogens, which is replenished almost annually. The pronounced clinical polymorphism of IE determines the importance of its early diagnosis, including the use of new medical technologies. Timely informing physicians about the modern principles of monitoring of patients with IE is of great practical importance. Part I of the article describes the clinical features, basic principles of diagnosis and differential diagnosis of IE, taking into account the recommendations of the European Society of Cardiology 2023.
{"title":"Management of patients with infective endocarditis: current state-of-art. Part I: clinical picture, diagnosis, differential diagnosis","authors":"B. Belov, G. Tarasova, N. V. Muravyova","doi":"10.14412/1996-7012-2024-3-7-13","DOIUrl":"https://doi.org/10.14412/1996-7012-2024-3-7-13","url":null,"abstract":" The problem of infective endocarditis (IE) remains relevant due to the high mortality rate and the development of severe complications. IE is a polyetiological disease, the occurrence and development of which can be caused by an extremely extensive list of pathogens, which is replenished almost annually. The pronounced clinical polymorphism of IE determines the importance of its early diagnosis, including the use of new medical technologies. Timely informing physicians about the modern principles of monitoring of patients with IE is of great practical importance. Part I of the article describes the clinical features, basic principles of diagnosis and differential diagnosis of IE, taking into account the recommendations of the European Society of Cardiology 2023.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"14 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141347518","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 : 2024-04-22DOI: 10.14412/1996-7012-2024-2-88-94
N. Y. Nikishin, E. Aseeva, A. Mesnyankina, S. Soloviev, E. S. Stolyarevich, V. Zelenov, A. Lila
Lupus nephritis (LN) occurs in 35–60% of patients with systemic lupus erythematosus (SLE), often in the early stages of the disease. LN is one of the most severe manifestations of SLE and, if not treated promptly and effectively, can lead to rapid and severe loss of kidney function. Despite modern pharmacotherapy, 5–20% of patients develop end-stage renal failure within 10 years of diagnosis of LN. The main principle of LN therapy is to prevent deterioration of renal function, but a consensus on outcome assessment criteria and clinically relevant short- and long-term goals for LN therapy has not yet been reached. There is increasing evidence of the importance of repeat kidney biopsies to assess the outcomes of the initial phase of therapy and to determine the long-term prognosis of renal failure. It is believed that the information obtained from repeat biopsies can help to make optimal treatment decisions and thus increase the likelihood of achieving a complete renal response in the short term and a more favorable renal prognosis in the long term.We describe a clinical case of a young patient with highly active SLE and morphologically confirmed class IV-S LN. Repeat biopsy and clinical and laboratory examination, had confirmed a clinical and laboratory remission of the disease on the background of the therapy. This made it possible to reduce the dose of methylpednisolone and cytostatic drugs (mycophenolate mofetil) and to discontinue therapy with biologic diseasemodifying antirheumatic drug (rituximab).
{"title":"The role of repeat kidney biopsy in patients with lupus nephritis (case report)","authors":"N. Y. Nikishin, E. Aseeva, A. Mesnyankina, S. Soloviev, E. S. Stolyarevich, V. Zelenov, A. Lila","doi":"10.14412/1996-7012-2024-2-88-94","DOIUrl":"https://doi.org/10.14412/1996-7012-2024-2-88-94","url":null,"abstract":"Lupus nephritis (LN) occurs in 35–60% of patients with systemic lupus erythematosus (SLE), often in the early stages of the disease. LN is one of the most severe manifestations of SLE and, if not treated promptly and effectively, can lead to rapid and severe loss of kidney function. Despite modern pharmacotherapy, 5–20% of patients develop end-stage renal failure within 10 years of diagnosis of LN. The main principle of LN therapy is to prevent deterioration of renal function, but a consensus on outcome assessment criteria and clinically relevant short- and long-term goals for LN therapy has not yet been reached. There is increasing evidence of the importance of repeat kidney biopsies to assess the outcomes of the initial phase of therapy and to determine the long-term prognosis of renal failure. It is believed that the information obtained from repeat biopsies can help to make optimal treatment decisions and thus increase the likelihood of achieving a complete renal response in the short term and a more favorable renal prognosis in the long term.We describe a clinical case of a young patient with highly active SLE and morphologically confirmed class IV-S LN. Repeat biopsy and clinical and laboratory examination, had confirmed a clinical and laboratory remission of the disease on the background of the therapy. This made it possible to reduce the dose of methylpednisolone and cytostatic drugs (mycophenolate mofetil) and to discontinue therapy with biologic diseasemodifying antirheumatic drug (rituximab).","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"79 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140675295","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 : 2024-04-22DOI: 10.14412/1996-7012-2024-2-95-102
M. I. Kaleda, I. Nikishina
Patients with juvenile-onset systemic lupus erythematosus (jSLE) account for up to 25% of all SLE patients. The main difference between jSLE and SLE in adults is the greater role of genetic factors in the pathogenesis, higher activity, earlier development of complications and the need for more aggressive immunosuppressive therapy, which allows us to consider the onset of the disease in childhood as a special phenotype of SLE. The relevance of the study of jSLE arises from the variability of clinical manifestations and the unpredictability of the course, the difficulty of early diagnosis, the rapid development of organ damage and the unfavorable life prognosis.The article presents the most important modern data on the diagnosis, classification, features of the clinical picture and treatment approaches of jSLE from a practical point of view.
{"title":"Systemic lupus erythematosus with juvenile onset: current status of the problem (literature review)","authors":"M. I. Kaleda, I. Nikishina","doi":"10.14412/1996-7012-2024-2-95-102","DOIUrl":"https://doi.org/10.14412/1996-7012-2024-2-95-102","url":null,"abstract":"Patients with juvenile-onset systemic lupus erythematosus (jSLE) account for up to 25% of all SLE patients. The main difference between jSLE and SLE in adults is the greater role of genetic factors in the pathogenesis, higher activity, earlier development of complications and the need for more aggressive immunosuppressive therapy, which allows us to consider the onset of the disease in childhood as a special phenotype of SLE. The relevance of the study of jSLE arises from the variability of clinical manifestations and the unpredictability of the course, the difficulty of early diagnosis, the rapid development of organ damage and the unfavorable life prognosis.The article presents the most important modern data on the diagnosis, classification, features of the clinical picture and treatment approaches of jSLE from a practical point of view.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"58 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140675844","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 : 2024-04-22DOI: 10.14412/1996-7012-2024-2-62-69
N. Toroptsova, M. Kozyreva, O. Dobrovolskaya
The most important factors that determine the risk of fractures are not only the presence of osteoporosis (OP), but also the risk of falls. In addition to sufficient physical activity, medications are needed that have a positive effect on the strength and functional performance of the skeletal muscles. Vitamin D supplements play a key role in this therapeutic approach.Objective: to investigate the tolerability, safety and efficacy of the generic drug Alfacalcidol Canon on the functional status of patients with reduced bone mineral density in clinical practice.Material and methods. The study involved 30 women with OP or osteopenia who were at high risk of falls (mean age 68.0±7.2 years) and who were administered Alfacalcidol Canon at a dose of 1 mcg/day for 3 months. The follow-up period included 4 visits to the clinic, during which laboratory tests were performed and falls and fractures, adverse reactions and patients' adherence to treatment were registered. At the first and last visits, quality of life was assessed using the EQ-5D and the functional status of the skeletal muscles was examined. At the 4th visit, the tolerability of the medication was assessed.Results and discussion. After 3 months of therapy, an increase in muscle strength of the dominant arm was observed by an average of 15.4% (p=0.00002). The time for the "Chair Stand Test" and the "Time up and go" test decreased by 17.4% (p=0.000012) and 13.6% (p=0.00004) respectively. The gait speed test increased on average by 13.9% (p=0.000013), it increased in 26 (86.7%) women. The SPPB test score increased on average by 12.5% (p=0.000001), and achievement of the best indicators was found in 23 (76.7%) women. There were no cases of hypercalcemia, hyperphosphatemia and hypermagnesemia, but 1 case of hypercalciuria was detected. Falls occurred in 2 women (6.7%) who had fallen in the previous year, one of whom suffered a fracture of humeral neck. Adverse reactions were observed in 3 (10 %) women, one of whom stopped taking the drug. 90% of the patients tolerated the treatment excellently. The average compliance rate was 94.3%.Conclusion. Alfacalcidol Canon is a safe and effective drug that can be used to improve the physical performance of skeletal muscles in patients with a high risk of falls.
{"title":"Alfacalcidol in clinical practice: focus on the efficacy and safety of the Russian generic drug","authors":"N. Toroptsova, M. Kozyreva, O. Dobrovolskaya","doi":"10.14412/1996-7012-2024-2-62-69","DOIUrl":"https://doi.org/10.14412/1996-7012-2024-2-62-69","url":null,"abstract":"The most important factors that determine the risk of fractures are not only the presence of osteoporosis (OP), but also the risk of falls. In addition to sufficient physical activity, medications are needed that have a positive effect on the strength and functional performance of the skeletal muscles. Vitamin D supplements play a key role in this therapeutic approach.Objective: to investigate the tolerability, safety and efficacy of the generic drug Alfacalcidol Canon on the functional status of patients with reduced bone mineral density in clinical practice.Material and methods. The study involved 30 women with OP or osteopenia who were at high risk of falls (mean age 68.0±7.2 years) and who were administered Alfacalcidol Canon at a dose of 1 mcg/day for 3 months. The follow-up period included 4 visits to the clinic, during which laboratory tests were performed and falls and fractures, adverse reactions and patients' adherence to treatment were registered. At the first and last visits, quality of life was assessed using the EQ-5D and the functional status of the skeletal muscles was examined. At the 4th visit, the tolerability of the medication was assessed.Results and discussion. After 3 months of therapy, an increase in muscle strength of the dominant arm was observed by an average of 15.4% (p=0.00002). The time for the \"Chair Stand Test\" and the \"Time up and go\" test decreased by 17.4% (p=0.000012) and 13.6% (p=0.00004) respectively. The gait speed test increased on average by 13.9% (p=0.000013), it increased in 26 (86.7%) women. The SPPB test score increased on average by 12.5% (p=0.000001), and achievement of the best indicators was found in 23 (76.7%) women. There were no cases of hypercalcemia, hyperphosphatemia and hypermagnesemia, but 1 case of hypercalciuria was detected. Falls occurred in 2 women (6.7%) who had fallen in the previous year, one of whom suffered a fracture of humeral neck. Adverse reactions were observed in 3 (10 %) women, one of whom stopped taking the drug. 90% of the patients tolerated the treatment excellently. The average compliance rate was 94.3%.Conclusion. Alfacalcidol Canon is a safe and effective drug that can be used to improve the physical performance of skeletal muscles in patients with a high risk of falls.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"8 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140673451","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 : 2024-04-22DOI: 10.14412/1996-7012-2024-2-75-80
E. Aseeva, N. S. Pokrovsky, S. Soloviev, E. V. Nikolaeva, N. Nikishina, E. T. Abdullin, T. Reshetnyak, E. Zotkin, A. Lila
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease of unknown etiology characterized by the overproduction of autoantibodies against various components of the nucleus of the patient's own cells with the development of immunoinflammatory tissue damage. In recent years, more and more data have accumulated on the involvement of neutrophils in the development of the clinical symptoms of SLE, and DNA-containing structures and neutrophil extracellular traps (NETs) playing an important role in this process. Effective neutralization of NETs in SLE can be achieved by removing circulating proteins and molecules associated with NETs from the bloodstream by selective plasma sorption of DNA using the NucleoCapture Device.This article describes the case of a patient who underwent three plasma sorption sessions aiming to suppress the activity of SLE. During the therapy, significant positive dynamics were achieved: the SLEDAI-2K index decreased from 32 to 12 points, the number of leukocytes in the blood normalized, renal function improved, and the immunological activity of the disease decreased.
系统性红斑狼疮(SLE)是一种病因不明的全身性自身免疫性疾病,其特点是针对患者自身细胞核的各种成分产生过量的自身抗体,并伴有免疫炎症性组织损伤。近年来,越来越多的数据表明,中性粒细胞参与了系统性红斑狼疮临床症状的形成,而含DNA的结构和中性粒细胞胞外捕获物(NETs)在这一过程中发挥着重要作用。通过使用 NucleoCapture 设备对 DNA 进行选择性血浆吸附,从血液中清除与 NET 相关的循环蛋白和分子,可有效中和系统性红斑狼疮中的 NET。在治疗过程中,取得了明显的积极效果:SLEDAI-2K指数从32点下降到12点,血液中的白细胞数量恢复正常,肾功能得到改善,疾病的免疫活性降低。
{"title":"The first clinical experience with selective DNA plasmasorption using the NucleoCapture Device in the treatment of systemic lupus erythematosus","authors":"E. Aseeva, N. S. Pokrovsky, S. Soloviev, E. V. Nikolaeva, N. Nikishina, E. T. Abdullin, T. Reshetnyak, E. Zotkin, A. Lila","doi":"10.14412/1996-7012-2024-2-75-80","DOIUrl":"https://doi.org/10.14412/1996-7012-2024-2-75-80","url":null,"abstract":"Systemic lupus erythematosus (SLE) is a systemic autoimmune disease of unknown etiology characterized by the overproduction of autoantibodies against various components of the nucleus of the patient's own cells with the development of immunoinflammatory tissue damage. In recent years, more and more data have accumulated on the involvement of neutrophils in the development of the clinical symptoms of SLE, and DNA-containing structures and neutrophil extracellular traps (NETs) playing an important role in this process. Effective neutralization of NETs in SLE can be achieved by removing circulating proteins and molecules associated with NETs from the bloodstream by selective plasma sorption of DNA using the NucleoCapture Device.This article describes the case of a patient who underwent three plasma sorption sessions aiming to suppress the activity of SLE. During the therapy, significant positive dynamics were achieved: the SLEDAI-2K index decreased from 32 to 12 points, the number of leukocytes in the blood normalized, renal function improved, and the immunological activity of the disease decreased.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"51 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140672673","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 : 2024-04-22DOI: 10.14412/19967012-2024-2-103-110
A. Tyurin, K. E. Akhiyarova, B. Yalaev, T. S. Zagidullin, R. Khusainova
Osteoporosis (OP) is a common disease leading to low-trauma fractures and is a serious medical and social problem. Often a fracture is the first clinical manifestation of OP that has been asymptomatic for a long time, necessitating the development of methods for early detection and risk assessment of this disease. OP is a multifactorial disease with a strong hereditary component. However, as the data from the study of genetic factors show, only 15% of the heritability of this trait can be explained. In this context, the focus of research is shifting to the area of epigenetic regulation, which controls gene activity without altering the primary structure of the DNA. One of the most promising mechanisms of epigenetic control is methylation, which affects DNA as well as RNA and histones. The characteristics of these mechanisms and the possibilities of their use for the diagnosis and treatment of OP are presented in this review.
骨质疏松症(OP)是一种导致低创伤骨折的常见疾病,也是一个严重的医疗和社会问题。骨折往往是长期无症状的骨质疏松症的首个临床表现,因此有必要开发早期检测和风险评估方法。OP 是一种多因素疾病,具有很强的遗传性。然而,遗传因素研究的数据显示,这种性状的遗传率只有 15%可以解释。在这种情况下,研究重点转向了表观遗传调控领域,即在不改变 DNA 原始结构的情况下控制基因活动。最有前途的表观遗传调控机制之一是甲基化,它既影响 DNA,也影响 RNA 和组蛋白。本综述将介绍这些机制的特点及其用于诊断和治疗 OP 的可能性。
{"title":"New molecular aspects of the pathogenesis of osteoporosis – perspectives for early diagnosis and treatment","authors":"A. Tyurin, K. E. Akhiyarova, B. Yalaev, T. S. Zagidullin, R. Khusainova","doi":"10.14412/19967012-2024-2-103-110","DOIUrl":"https://doi.org/10.14412/19967012-2024-2-103-110","url":null,"abstract":"Osteoporosis (OP) is a common disease leading to low-trauma fractures and is a serious medical and social problem. Often a fracture is the first clinical manifestation of OP that has been asymptomatic for a long time, necessitating the development of methods for early detection and risk assessment of this disease. OP is a multifactorial disease with a strong hereditary component. However, as the data from the study of genetic factors show, only 15% of the heritability of this trait can be explained. In this context, the focus of research is shifting to the area of epigenetic regulation, which controls gene activity without altering the primary structure of the DNA. One of the most promising mechanisms of epigenetic control is methylation, which affects DNA as well as RNA and histones. The characteristics of these mechanisms and the possibilities of their use for the diagnosis and treatment of OP are presented in this review.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"72 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140675338","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 : 2024-04-22DOI: 10.14412/1996-7012-2024-2-70-74
V. A. Pugach, N. Bulanov, T. P. Shevtsova, K. V. Kurginyan, P. I. Novikov, S. V. Moiseev
Libman–Sachs endocarditis (nonbacterial thrombotic endocarditis, NBTE) may be one of the cardiac manifestations of systemic lupus erythematosus (SLE). It is characterized by the presence of sterile platelet thrombi on previously normal heart valves. The diagnosis of NBTE is difficult as it is often asymptomatic until complications such as systemic emboli or valvular dysfunction occur. Patients with Libman–Sachs endocarditis and SLE are treated with immunosuppressive and anticoagulant therapy and, if it is ineffective, surgical treatment.A clinical case of SLE and Libman–Sachs endocarditis is presented. The clinical manifestations, diagnostic methods and treatment of NBTE in SLE are discussed. The difficulties in differential diagnosis and selection of optimal treatment tactics faced by physicians are highlighted.
{"title":"Libman–Sachs endocarditis: regression after immunosuppressive therapy in a patient with systemic lupus erythematosus","authors":"V. A. Pugach, N. Bulanov, T. P. Shevtsova, K. V. Kurginyan, P. I. Novikov, S. V. Moiseev","doi":"10.14412/1996-7012-2024-2-70-74","DOIUrl":"https://doi.org/10.14412/1996-7012-2024-2-70-74","url":null,"abstract":"Libman–Sachs endocarditis (nonbacterial thrombotic endocarditis, NBTE) may be one of the cardiac manifestations of systemic lupus erythematosus (SLE). It is characterized by the presence of sterile platelet thrombi on previously normal heart valves. The diagnosis of NBTE is difficult as it is often asymptomatic until complications such as systemic emboli or valvular dysfunction occur. Patients with Libman–Sachs endocarditis and SLE are treated with immunosuppressive and anticoagulant therapy and, if it is ineffective, surgical treatment.A clinical case of SLE and Libman–Sachs endocarditis is presented. The clinical manifestations, diagnostic methods and treatment of NBTE in SLE are discussed. The difficulties in differential diagnosis and selection of optimal treatment tactics faced by physicians are highlighted.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"89 18","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140677035","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 : 2024-04-19DOI: 10.14412/1996-7012-2024-2-7-15
O. N. Egorova, G. M. Tarasova, B. Issaeva, A. Datsina, D. S. Dilmanova, S. M. Issaeva, M. G. Nogaeva, A. G. Issaeva, A. S. Amanzholova, M. Saparbayeva, A. Atasheva, A. B. Kanapina
Vasculitides associated with antineutrophil cytoplasmic antibodies (ANCA) are a group of systemic autoimmune diseases characterized by necrotizing lesions of the walls of predominantly small vessels and the presence of ANCA against proteinase 3 or myeloperoxidase. However, an increase in ANCA levels can also be observed in other diseases, including autoimmune, malignant and infectious diseases, which complicates the interpretation of clinical and laboratory data and requires a differential diagnosis.
与抗中性粒细胞胞浆抗体(ANCA)相关的血管炎是一组全身性自身免疫性疾病,其特点是以小血管壁坏死性病变为主,并存在抗蛋白酶 3 或髓过氧化物酶的 ANCA。然而,在其他疾病中也可观察到 ANCA 水平升高,包括自身免疫性疾病、恶性疾病和感染性疾病,这就使临床和实验室数据的解释变得复杂,需要进行鉴别诊断。
{"title":"On the problem of differential diagnosis in the detection of antineutrophil cytoplasmic antibodies","authors":"O. N. Egorova, G. M. Tarasova, B. Issaeva, A. Datsina, D. S. Dilmanova, S. M. Issaeva, M. G. Nogaeva, A. G. Issaeva, A. S. Amanzholova, M. Saparbayeva, A. Atasheva, A. B. Kanapina","doi":"10.14412/1996-7012-2024-2-7-15","DOIUrl":"https://doi.org/10.14412/1996-7012-2024-2-7-15","url":null,"abstract":"Vasculitides associated with antineutrophil cytoplasmic antibodies (ANCA) are a group of systemic autoimmune diseases characterized by necrotizing lesions of the walls of predominantly small vessels and the presence of ANCA against proteinase 3 or myeloperoxidase. However, an increase in ANCA levels can also be observed in other diseases, including autoimmune, malignant and infectious diseases, which complicates the interpretation of clinical and laboratory data and requires a differential diagnosis.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":" 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140684177","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 : 2024-04-19DOI: 10.14412/1996-7012-2024-2-25-32
S. Salugina, E. S. Fedoro, A. Torgashina
Objective: to present the experience of diagnosis, management and therapy with interleukin-1 inhibitors (iIL1) in patients with Chronic Infantile Onset Neurologic Cutaneous Articular/Neonatal Onset Multisystem Inflammatory Disease (CINCA/NOMID) according to the Russian Federal Rheumatological Center data.Material and methods. From 2007 to 2023, eight patients were included in the study (7 men) aged 10 months to 33 years, including 3 with a disease duration of more than 10 years (13, 17 and 33 years). Genetic testing was performed in all patients and mutations in the NLRP3 gene were identified in 6 cases.Results and discussion. The age of onset of the disease ranged from 0 to 6 months. The delay in diagnosis and prescription of therapy ranged from 10 months to 33 years. All patients had the classic manifestations of CINCA/NOMID, including fever, rash, central nervous system (CNS) involvement, elevated ESR and CRP levels, 6 patients had articular manifestations, 7 had ocular manifestations and 6 had sensorineural hearing loss. Amyloidosis was detected in 1 case. All patients were prescribed iIL1. Anakinra was used in 6 patients (in 5 as the first line, in 1 as the second line therapy) with a positive response; subsequently 2 of these patients were switched to canakinumab once every 4 weeks (1 patient deteriorated and was readministered anakinra). Five patients received canakinumab (3 as first-line therapy, 2 as second-line therapy), 1 patient was switched to anakinra due to insufficient CNS response. The response to iIL1 therapy was positive in all patients, but incomplete in some of them due to the severity of the manifestations and the presence of irreversible organ damage.Conclusion. Patients with CINCA/NOMID have a severe disease and a poor prognosis. In this context, early administration of iIL1 is necessary. In the case of CNS involvement, the use of anakinra is preferable, as it is characterized by better penetration of the blood-brain barrier and is therefore more effective. Later it is possible to switch the patient to canakinumab, however, to achieve a complete response, it is sometimes necessary to increase the dose of the drug and reduce the interval between doses.
{"title":"CINCA/NOMID is a rare autoinflammatory syndrome in rheumatological practice. Experience of diagnosis, management and therapy with interleukin-1 inhibitors","authors":"S. Salugina, E. S. Fedoro, A. Torgashina","doi":"10.14412/1996-7012-2024-2-25-32","DOIUrl":"https://doi.org/10.14412/1996-7012-2024-2-25-32","url":null,"abstract":"Objective: to present the experience of diagnosis, management and therapy with interleukin-1 inhibitors (iIL1) in patients with Chronic Infantile Onset Neurologic Cutaneous Articular/Neonatal Onset Multisystem Inflammatory Disease (CINCA/NOMID) according to the Russian Federal Rheumatological Center data.Material and methods. From 2007 to 2023, eight patients were included in the study (7 men) aged 10 months to 33 years, including 3 with a disease duration of more than 10 years (13, 17 and 33 years). Genetic testing was performed in all patients and mutations in the NLRP3 gene were identified in 6 cases.Results and discussion. The age of onset of the disease ranged from 0 to 6 months. The delay in diagnosis and prescription of therapy ranged from 10 months to 33 years. All patients had the classic manifestations of CINCA/NOMID, including fever, rash, central nervous system (CNS) involvement, elevated ESR and CRP levels, 6 patients had articular manifestations, 7 had ocular manifestations and 6 had sensorineural hearing loss. Amyloidosis was detected in 1 case. All patients were prescribed iIL1. Anakinra was used in 6 patients (in 5 as the first line, in 1 as the second line therapy) with a positive response; subsequently 2 of these patients were switched to canakinumab once every 4 weeks (1 patient deteriorated and was readministered anakinra). Five patients received canakinumab (3 as first-line therapy, 2 as second-line therapy), 1 patient was switched to anakinra due to insufficient CNS response. The response to iIL1 therapy was positive in all patients, but incomplete in some of them due to the severity of the manifestations and the presence of irreversible organ damage.Conclusion. Patients with CINCA/NOMID have a severe disease and a poor prognosis. In this context, early administration of iIL1 is necessary. In the case of CNS involvement, the use of anakinra is preferable, as it is characterized by better penetration of the blood-brain barrier and is therefore more effective. Later it is possible to switch the patient to canakinumab, however, to achieve a complete response, it is sometimes necessary to increase the dose of the drug and reduce the interval between doses.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":" 40","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140683884","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}