Annals of the Russian academy of medical sciences最新文献

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Evolution and Perspectives of Anesthesia and Analgesia Techniques for Coronary Artery Bypass Grafting 冠状动脉旁路移植术麻醉和镇痛技术的发展与展望
Annals of the Russian academy of medical sciences Pub Date : 2024-02-29 DOI: 10.15690/vramn8811
K. Paromov, D. Svirskii, M. Kirov
{"title":"Evolution and Perspectives of Anesthesia and Analgesia Techniques for Coronary Artery Bypass Grafting","authors":"K. Paromov, D. Svirskii, M. Kirov","doi":"10.15690/vramn8811","DOIUrl":"https://doi.org/10.15690/vramn8811","url":null,"abstract":"For more than 60-year history of coronary artery bypass grafting, surgical techniques and specialists’ competence were improved as well as the safety of anesthesiological management. This analytical review discusses modern features of analgesia during coronary surgery and early postoperative period. We described current opinion on perioperative administration of opioids and modern methods of analgesia, taking into account possible complications of their use. Despite the low mortality and overall safety of coronary bypass grafting nowadays, the optimal strategy of analgesia for this surgery is not established yet. This review lists routinely used analgetics and some aspects of their use in cardiac anesthesiology, outlines trends and prospects for the introduction of new drugs and techniques for analgesia. Despite a number of restrictions on the use of opioids in intensive care in modern era, in cardiac anesthesiology their use remains justified and, under certain conditions, safe enough.","PeriodicalId":178392,"journal":{"name":"Annals of the Russian academy of medical sciences","volume":"88 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140414606","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
Drug-Resistant Tuberculosis: Development Mechanisms and Methods of Molecular Genetic Diagnosis 耐药性结核病:分子遗传学诊断的发展机制和方法
Annals of the Russian academy of medical sciences Pub Date : 2024-02-29 DOI: 10.15690/vramn8807
A. Ergeshov, S. Andreevskaya, Tatyana G. Smirnova, Larisa N. Chernousova
{"title":"Drug-Resistant Tuberculosis: Development Mechanisms and Methods of Molecular Genetic Diagnosis","authors":"A. Ergeshov, S. Andreevskaya, Tatyana G. Smirnova, Larisa N. Chernousova","doi":"10.15690/vramn8807","DOIUrl":"https://doi.org/10.15690/vramn8807","url":null,"abstract":"The widespread occurrence of drug-resistant tuberculosis is an important public health challenge. To better understand this phenomenon, the article summarizes current ideas on the development of mechanisms of Mycobacterium tuberculosis resistance to antituberculosis drugs. Special attention is paid to the mechanism of acquired resistance based on mutations in the genes encoding antituberculosis drug targets or enzymes that translate pro-drug into its active form; the effect of these mutations on fitness of the pathogen is in the focus of the article. It emphasizes the leading role of molecular genetic methods for diagnosing M. tuberculosis drug resistance and importance of these methods for preventing the expansion of the pathogen’s resistance range and the spread of resistant clones in the population. A comparison of sequencing and PCR-based methods capacities led to a conclusion that at the current stage of technological development it is reasonable to use each of these approaches for specific purposes: domestic PCR-based tests — for diagnosis, and sequencing — for basic research of M. tuberculosis evolution and epidemiological monitoring. Promising areas of M. tuberculosis resistance research were proposed to develop new approaches for diagnosis and treatment of drug-resistant tuberculosis and to provide effective personalized therapy.","PeriodicalId":178392,"journal":{"name":"Annals of the Russian academy of medical sciences","volume":"15 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140415356","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 Skin Diseases in Multiple Sclerosis: Comorbidity Issues and the Impact of Pathogenetic Therapy 多发性硬化症的自身免疫性皮肤病:并发症问题和病因治疗的影响
Annals of the Russian academy of medical sciences Pub Date : 2024-02-29 DOI: 10.15690/vramn12461
A. Dvornikov, E. I. Gusev, M. Martynov, N. Lashch, T. Gaydina, A. S. Chukanova, A. N. Boyko
{"title":"Autoimmune Skin Diseases in Multiple Sclerosis: Comorbidity Issues and the Impact of Pathogenetic Therapy","authors":"A. Dvornikov, E. I. Gusev, M. Martynov, N. Lashch, T. Gaydina, A. S. Chukanova, A. N. Boyko","doi":"10.15690/vramn12461","DOIUrl":"https://doi.org/10.15690/vramn12461","url":null,"abstract":"The number of autoimmune diseases (AS), currently numbering more than 100 nosological forms, is constantly growing and is a significant problem of clinical medicine. Advances in the definition of diagnostic biomarkers and clinical tests make it possible in most cases to carry out differential diagnosis of autoimmune pathology and prescribe personalized immunocorrection. The modern understanding of the mechanisms of AS is based on the breakdown of tolerance to their own antigens, which occurs in genetically predisposed individuals against the background of impaired immunoregulation. In this review, using the example of multiple sclerosis (MS) as a classic AS of the nervous system, a possible combination of common autoimmune mechanisms of MS and such common skin diseases as psoriasis and atopic dermatitis is considered. Advances in the field of pharmacy have accelerated the path from the creation of new molecules to the introduction of modern pathogenetic drugs into daily clinical practice. To prevent exacerbations and progression of MS, disease-modifying therapy of MS are currently used. This treatment is permanent and long-term, and it is very important to take into account the comorbid pathologies that develop against the background of this therapy. The review shows the effect of DMT on the manifestation of skin diseases. The use of modern bioengineered drugs can contribute both to the activation and emergence of new diseases, and to stabilize the patient’s condition in the presence of autoimmune comorbidity.","PeriodicalId":178392,"journal":{"name":"Annals of the Russian academy of medical sciences","volume":"2 23 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140415660","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
To the 75th Anniversary of Academician of the Russian Academy of Sciences Leyla Vladimirovna Adamyan 纪念俄罗斯科学院院士莱拉-弗拉基米罗夫娜-阿达米扬诞辰 75 周年
Annals of the Russian academy of medical sciences Pub Date : 2024-02-29 DOI: 10.15690/vramn17939
I. V. Reshetov, Natalya I. Usoltseva, Natalia V. Sergeeva, Alexei A. Serikov
{"title":"To the 75th Anniversary of Academician of the Russian Academy of Sciences Leyla Vladimirovna Adamyan","authors":"I. V. Reshetov, Natalya I. Usoltseva, Natalia V. Sergeeva, Alexei A. Serikov","doi":"10.15690/vramn17939","DOIUrl":"https://doi.org/10.15690/vramn17939","url":null,"abstract":"January 20, 2024 marked the 75th anniversary of the birth of the largest specialist and outstanding scientist in the field of obstetrics and gynecology, laureate of the Government of the Russian Federation in the field of science and technology, full Knight of the Order of Merit for the Fatherland, Honored Scientist of the Russian Federation, Doctor of Medical Sciences, Professor, Academician of the Russian Academy of Sciences Leyla Vladimirovna Adamyan.","PeriodicalId":178392,"journal":{"name":"Annals of the Russian academy of medical sciences","volume":"78 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140408653","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
Paradigm Shift: New Approaches to Understanding Autism Spectrum Disorders 范式转变:理解自闭症谱系障碍的新方法
Annals of the Russian academy of medical sciences Pub Date : 2024-02-29 DOI: 10.15690/vramn12996
N. Ustinova, L. S. Namazova-Baranova, A. A. Baranov, E. Vishneva, Elena V. Kaitukova, T. Turti, Valerii Y. Albitskiy, Lilia R. Selimzianova, Elena A. Gorbunova, K. Efendieva
{"title":"Paradigm Shift: New Approaches to Understanding Autism Spectrum Disorders","authors":"N. Ustinova, L. S. Namazova-Baranova, A. A. Baranov, E. Vishneva, Elena V. Kaitukova, T. Turti, Valerii Y. Albitskiy, Lilia R. Selimzianova, Elena A. Gorbunova, K. Efendieva","doi":"10.15690/vramn12996","DOIUrl":"https://doi.org/10.15690/vramn12996","url":null,"abstract":"A significant increase in the prevalence of autism spectrum disorders (ASD), both worldwide and in our country, dictates the need to search for modern and effective methods of prevention, diagnosis and medical care for such patients. At the same time, the results of numerous biomedical research in the field of autism are not reflected in practical healthcare. Aims of this work — substantiation of new approaches to the organization of medical care for people with ASD. The results of promising areas of autism research in the field of genetics, epigenetics, metabolomics, microbiome and multimorbidity, which marked a paradigm shift in the understanding of autism spectrum disorders, and requiring implementation in practice, are analyzed. Based on the concept of 7-p pediatrics (programming child development and health, preventive, predictive, personalized, participatory, multiprofessional, progressive), the necessity and possibility of implementing the results of scientific research into real clinical practice of managing children with autism are substantiated. The results of fundamental scientific research in the field of ASD, revealing their complex and multifaceted nature, allow us to talk about a paradigm shift in understanding this disorder Based on a new concept of medical care — 7P-pediatrics — the results of scientific research can be translated into real clinical practice, including diagnostic, therapeutic, preventive and rehabilitative effects on autism, as well ase programming of the optimal trajectory of the cognitive-behavioral phenotype of children with neurodevelopmental features, including ASD.","PeriodicalId":178392,"journal":{"name":"Annals of the Russian academy of medical sciences","volume":"13 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140414107","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
To the 75th Anniversary of Academician of the Russian Academy of Sciences Gennady Petrovich Kotelnikov 纪念俄罗斯科学院院士根纳季-彼得罗维奇-科捷尔尼科夫(Gennady Petrovich Kotelnikov)诞辰 75 周年
Annals of the Russian academy of medical sciences Pub Date : 2024-02-29 DOI: 10.15690/vramn17943
I. V. Reshetov, Natalya I. Usoltseva, Natalia V. Sergeeva, Alexei A. Serikov
{"title":"To the 75th Anniversary of Academician of the Russian Academy of Sciences Gennady Petrovich Kotelnikov","authors":"I. V. Reshetov, Natalya I. Usoltseva, Natalia V. Sergeeva, Alexei A. Serikov","doi":"10.15690/vramn17943","DOIUrl":"https://doi.org/10.15690/vramn17943","url":null,"abstract":"On January 11, 2024, the largest scientist in the field of traumatology and orthopedics, a talented organizer of healthcare and higher education, a public figure, laureate of the State Prize of the Russian Federation in the field of science and technology, three times laureate of the Government of the Russian Federation, Honored Scientist of the Russian Federation, academician, turned 75 RAS to Gennady Petrovich Kotelnikov.","PeriodicalId":178392,"journal":{"name":"Annals of the Russian academy of medical sciences","volume":"143 1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140414709","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
Biologic Drug Survival in Pediatric Psoriasis: A Retro-Prospective Observational Study 小儿银屑病的生物制剂存活率:一项回顾性观察研究
Annals of the Russian academy of medical sciences Pub Date : 2024-01-22 DOI: 10.15690/vramn12453
N. Murashkin, R. A. Ivanov
{"title":"Biologic Drug Survival in Pediatric Psoriasis: A Retro-Prospective Observational Study","authors":"N. Murashkin, R. A. Ivanov","doi":"10.15690/vramn12453","DOIUrl":"https://doi.org/10.15690/vramn12453","url":null,"abstract":"Background. Irrational selection of biological therapy leads to its inefficiency and early cancellation, aggravating the course of psoriasis and worsening the quality of life, which has negative socio-economic consequences associated with the cost of initiating and providing the patient with a new biological agent. Currently there are no clearly defined strategies and unified protocols for therapeutic tactics regarding the choice and switching of biological drugs in children with psoriasis, which requires research aimed at studying the survival of biological therapy in order to draw up evidence-based recommendations with a high evidence base. Aims — study aims to determine survival rate and significant predictors of biological therapy discontinuation. Methods. A retro-prospective observational study was conducted, which included patients with psoriasis vulgaris, aged 4 to 18 years, who had previously received or needed biological therapy. The data of patients over an 8-year period (from 2015 to 2023) were analyzed. Follow-up was performed from initiation to discontinuation of biological therapy, in cases where outcomes were unknown data was censored. Analysis of therapy survival was carried out using the Kaplan–Meier method with curve construction, the assessment of intergroup differences was carried out using a log rank test. Identification of significant predictors of biological therapy discontinuation was carried out using the Cox multivariate regression method. Results. 430 cases of biological therapy were selected from patients with psoriasis vulgaris aged 5 to 18 years. The highest survival rate of biological therapy was obtained for ustekinumab — 54.9 months, the lowest values — for etanercept (26.7 months). The survival values of adalimumab — 33.9 months and secukinumab — 34.5 months did not statistically significantly differ from each other (p = 0.387). Predictors of early discontinuation of biological therapy were established: presence of a burdened family history (HR = 3.861, p = 0.006); delayed prescription of biological therapy — 2 years from the date of diagnosis (HR = 1.447, p = 0.045); long-term ( 6 months) use of methotrexate (HR = 3.085, p 0.001) or cyclosporine (HR = 4.538, p 0.001) previous to the biological treatment; the presence of comorbidity (inflammatory bowel diseases (HR = 4.938, p = 0.001), metabolic syndrome (HR = 3.947, p 0.001) or psoriatic arthritis (HR = 2.337, p 0.001). Conclusions. Proved the inexpediency of long-term immunosuppressive treatment with non-biological drugs and the need for early prescription of biological therapy. In the presence of a burdened family history and disease duration 2 years since the diagnosis of psoriasis, ustekinumab or secukinumab are recommended as first-line biological therapy in children, the use of which is also associated with a longer duration of treatment and a lower risk of developing adverse events in patient with metabolic syndrome. In active Crohn’s disease, adalimumab ","PeriodicalId":178392,"journal":{"name":"Annals of the Russian academy of medical sciences","volume":"7 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140499583","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
Structural Parameters of the Brain and Bone Structures of the Head and Neck in Patients with Various Types of Mucopolysaccharidoses According to Magnetic Resonance Imaging of the Brain 根据脑部磁共振成像确定各类粘多糖病患者的脑部和头颈部骨骼结构参数
Annals of the Russian academy of medical sciences Pub Date : 2024-01-22 DOI: 10.15690/vramn11613
Anastasia I. Rykunova, N. Vashakmadze, N. V. Zhurkova, Georgiy A. Karkashadze, E. Zakharova, Alexey I. Firumyants, Andrej N. Surkov
{"title":"Structural Parameters of the Brain and Bone Structures of the Head and Neck in Patients with Various Types of Mucopolysaccharidoses According to Magnetic Resonance Imaging of the Brain","authors":"Anastasia I. Rykunova, N. Vashakmadze, N. V. Zhurkova, Georgiy A. Karkashadze, E. Zakharova, Alexey I. Firumyants, Andrej N. Surkov","doi":"10.15690/vramn11613","DOIUrl":"https://doi.org/10.15690/vramn11613","url":null,"abstract":"Background. Mucopolysaccharidoses are diseases from the group of lysosomal storage diseases that have a progressive course. CNS damage is one of the main factors in the development of severe, life-threatening complications. Aims — аssessment of structural changes in the brain and bones of the head and neck in patients with various types of mucopolysaccharidoses. Methods. The research included 136 children aged from 11 months to 17 years, 81 patients of which showed various types of mucopolysaccharidoses: MPS I — 15 people, MPS II — 37, MPS III A — 10, MPS IIIB — 4, MPS IIIC — 2, MPS IVA — 6, VI — 7 people. The control group included 56 children without neurological, psychiatric and severe somatic illnesses. Results. For mucopolysaccharidoses types I, II, III and VI, the most characteristic structural changes on the brain MRI were white matter lesions, mainly periventricular: expansion of the perivascular spaces (70%), atrophy of the cerebral hemispheres (42%), hippocampus, (31%), ventriculomegaly (6.2%), stenosis of the cervical spine (64%), hydrocephalus, expansion of the cerebrospinal fluid spaces of the posterior cranial fossa, arachnoid cysts. Conclusions. The results of the obtained data analysis made it possible to identify the macrostructural specifics of the brain disorders and cervical spine in various types of MPS, as well as their prognostic significance.","PeriodicalId":178392,"journal":{"name":"Annals of the Russian academy of medical sciences","volume":"125 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140500260","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
Modern Possibilities for Predicting Systemic Manifestations of Food Allergy Based on the Results of a Prospective Cohort Study 根据前瞻性队列研究结果预测食物过敏全身表现的现代可能性
Annals of the Russian academy of medical sciences Pub Date : 2024-01-22 DOI: 10.15690/vramn12970
T. S. Lepeshkova, O. P. Kovtun, E. Beltyukov, V. Naumova, S. A. Tsarkova, V. V. Bazarny, L. Polushina
{"title":"Modern Possibilities for Predicting Systemic Manifestations of Food Allergy Based on the Results of a Prospective Cohort Study","authors":"T. S. Lepeshkova, O. P. Kovtun, E. Beltyukov, V. Naumova, S. A. Tsarkova, V. V. Bazarny, L. Polushina","doi":"10.15690/vramn12970","DOIUrl":"https://doi.org/10.15690/vramn12970","url":null,"abstract":"Background. Food allergies (FA) are a common problem in childhood. Food anaphylaxis (FAN) can be life threatening. In this regard, it is reasonable to study clinical and anamnestic data and factors that can influence FAN formation in order to develop mathematical models of prognosis aimed at reducing acute episodes of FA, including FAN. Aims — to establish clinical and pathogenetic factors contributing to the formation of systemic manifestations of FA in children and to develop a mathematical method for predicting severe systemic reactions to food. Methods. A prospective cohort open study included 76 children (5.12 ± 3.74 years) suffering from persistent FA with a history of FAN episodes. The comparison group included 134 children (7.18 ± 2.52 years old) who had atopic diseases, local manifestations of FA, but without systemic reactions to food. Illness and life history, presence and severity of concomitant diseases were studied, general clinical and immunological studies were performed (in blood serum and oral cavity). Results. Based on the data in 210 children, the odds ratio (OR) of systemic FA formation was calculated, where the risks were: caesarean section (OR 1.8; 95% CI [1.02; 3.01]; p 0.05), immediate allergic reactions to food (OR 3.3; 95% CI [1.47; 7.39]; p 0.05), maternal anemia during pregnancy (OR 3.5; 95% CI [1.83; 6.57]; p 0.05), allergic diseases in siblings (OR 4.8; 95% CI [2.04; 11.18]; p 0.05), presence of atopic dermatitis (AD) (OR 3.7; 95% CI [1.77; 7.68]; p 0.05), allergy to cow’s milk proteins (CMP) (OR 7.8; 95% CI [4.31; 14.24]; p 0.05), clinical need for introduction of amino acid formulae (OR 100.8; 95% CI [13.37; 760.67]; p 0.05). A mathematical method was found for predicting FAN with a decision rule Y ≥ 0.35, with a forecast efficiency of up to 90% when using a linear regression equation: Y = 0.0518 + 0.2983×A1 + 0.2390 × A2 + 0.4793×A3 – 0.0037 × A4 + 0.0002 × A5, where A1 is CMP as the first allergic product (0 or 1), A2 is rapid onset of reaction (0 or 1), A3 is amino acid formulae use (0 or 1), A4 is age of wheezing (in months), A5 is eosinophils (cells/µl). Conclusions. Symptoms of AD and severe FA to CMP, requiring amino acid formulae introduction, should be considered as alarming anamnestic data for predicting possible FAN episodes, if the child has immediate type of FA, the mother’s pregnancy proceeded against the background of anemia, delivery was carried out operatively way and there are already children with atopic diseases in the family. The proposed mathematical method for predicting FAN makes it possible to determine probability of severe allergic reactions to food in children with an efficiency of up to 90%.","PeriodicalId":178392,"journal":{"name":"Annals of the Russian academy of medical sciences","volume":"19 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140500438","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
Primary Immunodeficiency with the PI3K Delta Activation: Clinical Features and Prospective Therapy PI3K Delta 激活的原发性免疫缺陷症:临床特征与前瞻性治疗
Annals of the Russian academy of medical sciences Pub Date : 2024-01-22 DOI: 10.15690/vramn15828
Ekaterina Yu. Selina, A. Shcherbina
{"title":"Primary Immunodeficiency with the PI3K Delta Activation: Clinical Features and Prospective Therapy","authors":"Ekaterina Yu. Selina, A. Shcherbina","doi":"10.15690/vramn15828","DOIUrl":"https://doi.org/10.15690/vramn15828","url":null,"abstract":"Primary immunodeficiency (PID) constitute a polymorphic group of genetic life-threatening disorders. APDS (activated phosphoinositide 3-kinase δ) represents a rare PID caused by monoallelic gain of function defects in the PIK3CD gene, or monoallelic loss of function defects in the PIK3R1 and PTEN genes. Disease symptoms usually manifest early in life and include recurrent bacterial infections, non-malignant and malignant lymphoproliferation, persistent herpes virus infections and a whole spectrum of autoimmune manifestations. Immunological features include T and B lymphocytes defects. APDS treatment including immunoglobulin substitution and immunosuppression does not always lead to complete remission of the disease. Hematopoietic stem cell transplantation is a curative option leading to disease resolution in 75–80% of the patients. In 2023 FDA approved leniolisib — selective PI3Kδ inhibitor — for APDS treatment. In the clinical trial the preparation demonstrated safety and efficacy for the patients with APDS ages 12 and above. Approval of the drug created specifically to treat this rare variant of PID opens a new era of the targeted treatment for the patients with this orphan disease.","PeriodicalId":178392,"journal":{"name":"Annals of the Russian academy of medical sciences","volume":"284 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140499869","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
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