Pub Date : 2023-06-01DOI: 10.24110/0031-403x-2023-102-3-183-187
F.M. Balafendieva, L. Kiselnikova
Purpose of the research was to study the frequency of occurrence of the temporary teeth eruption syndrome and the influence of some factors on its manifestations. Materials and methods used: children aged 4 months to 2 years and 5 months old living in the North-East Administrative Okrug of Moscow with health profile I, II groups who applied with symptoms of undesirable local and general manifestations of temporary teeth eruption were examined in 2022 on the basis of the Moscow City Children's Polyclinic No. 125 of the Moscow Department of Healthcare (Moscow, Russia) as part of preventive dental examinations. Results: during dental examinations of 250 children with symptoms of temporary teeth eruption it was revealed that only 214 (86%) were diagnosed with teething syndrome (ICD-10 K00.7). A statistically significant relationship was found between the incidence of difficult temporary teeth eruption and deviation from the average body weight (BW) at birth in children with low and high BW (R^2=0.836, p<0.001; R^2=0.880, p<0.001). Analysis of the nature of children feeding and the frequency of occurrence of difficult temporary teeth eruption showed statistically significant relationship in children who were bottle-fed (R^2=0.987, p<0.001) and mixed-fed (R^2=0.971, p<0.001). Conclusion: the results of a clinical study of children confirm the high incidence of difficult teeth eruption as well as the effect of birth weight and the type of feeding on the incidence of difficult teeth eruption.
{"title":"ANALYSIS OF SOME FACTORS AFFECTING THE TEMPORARY TEETH ERUPTION","authors":"F.M. Balafendieva, L. Kiselnikova","doi":"10.24110/0031-403x-2023-102-3-183-187","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-3-183-187","url":null,"abstract":"Purpose of the research was to study the frequency of occurrence of the temporary teeth eruption syndrome and the influence of some factors on its manifestations. Materials and methods used: children aged 4 months to 2 years and 5 months old living in the North-East Administrative Okrug of Moscow with health profile I, II groups who applied with symptoms of undesirable local and general manifestations of temporary teeth eruption were examined in 2022 on the basis of the Moscow City Children's Polyclinic No. 125 of the Moscow Department of Healthcare (Moscow, Russia) as part of preventive dental examinations. Results: during dental examinations of 250 children with symptoms of temporary teeth eruption it was revealed that only 214 (86%) were diagnosed with teething syndrome (ICD-10 K00.7). A statistically significant relationship was found between the incidence of difficult temporary teeth eruption and deviation from the average body weight (BW) at birth in children with low and high BW (R^2=0.836, p<0.001; R^2=0.880, p<0.001). Analysis of the nature of children feeding and the frequency of occurrence of difficult temporary teeth eruption showed statistically significant relationship in children who were bottle-fed (R^2=0.987, p<0.001) and mixed-fed (R^2=0.971, p<0.001). Conclusion: the results of a clinical study of children confirm the high incidence of difficult teeth eruption as well as the effect of birth weight and the type of feeding on the incidence of difficult teeth eruption.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89302759","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}
Repeated craniospinal irradiation (CSR) is one of the options in the treatment of multifocal recurrences of medulloblastomas (MB), however, it is prescribed to a limited extent due to its toxicity. The use of proton therapy can reduce the toxicity of treatment. Materials and methods used: a single-center retrospective cohort study was conducted in 25 patients (18 (72%) boys/7 (28%) girls) aged 7 to 18 y/o (median 13 (10-14) y/o) in 2019-2023. Repeated CSR was performed for leptomeningeal MB recurrence using a proton beam at the Treatment and Diagnostic Center of the International Institute of Biological Systems named after Sergey Berezin (Saint Petersburg, Russia). The median dose of primary CSR was 35.2 Gy (24-35.2). The median dose of repeated CSR was 30.6 Gy (24-35.2). 23 patients after CSR were given a local boost on the area of metastatic lesions and local recurrence (if any). 7 had previously received courses of repeated radiation therapy for recurrent MB. Results: during the course of the treatment thrombocytopenia was noted with a statistically significant decrease by the 3rd week of treatment (M=97x109/l, p<0.001). The median follow-up was 12.5 months (8-19.5). In 8 patients, progression of the disease was observed, which resulted in the death of 7 of them. In one patient, the appearance of radiation necrosis in the local boost area (left cerebellar peduncle) was noted 5 months after the completion of the repeated irradiation course. The median progression period was 17 months (95% CI 10.8-23.1). Conclusions: proton therapy makes it possible to deliver therapeutic doses for CSR with an acceptable level of hematological toxicity. The obtained data on relapse-free and overall survival indicate the need for further study of the role of repeated CSR and the development of a methodology for calculating the permissible maximum effective dose during the repeated exposure.
反复颅脊髓照射(CSR)是治疗髓母细胞瘤(MB)多灶性复发的选择之一，但由于其毒性，其使用范围有限。使用质子治疗可以减少治疗的毒性。使用的材料和方法:在2019-2023年对25例患者(18例(72%)男孩/7例(28%)女孩)进行了单中心回顾性队列研究，年龄为7 - 18岁(中位数为13例(10-14)岁)。在Sergey Berezin(圣彼得堡，俄罗斯)命名的国际生物系统研究所治疗和诊断中心，使用质子束对脑膜轻脑膜MB复发进行重复CSR。原发性CSR的中位剂量为35.2 Gy(24-35.2)。重复CSR的中位剂量为30.6 Gy(24-35.2)。23例患者在CSR后给予局部增强转移灶和局部复发(如果有的话)的面积。结果:治疗过程中血小板减少，治疗第3周明显减少(M=97x109/l, p<0.001)。中位随访时间为12.5个月(8-19.5)。在8例患者中，观察到疾病进展，导致7例死亡。1例患者在重复放射治疗完成5个月后，局部增强区(左小脑脚)出现放射性坏死。中位进展期为17个月(95% CI 10.8-23.1)。结论:质子治疗使CSR的治疗剂量达到可接受的血液学毒性水平成为可能。获得的无复发和总生存期数据表明，需要进一步研究重复CSR的作用，并制定一种计算重复暴露期间允许的最大有效剂量的方法。
{"title":"REPEATED CRANIOSPINAL IRRADIATION IN PEDIATRIC PATIENTS WITH RECURRENT MEDULLOBLASTOMA: PROTON THERAPY EXPERIENCE AT THE TREATMENT AND DIAGNOSTIC CENTER OF THE INTERNATIONAL INSTITUTE OF BIOLOGICAL SYSTEMS NAMED AFTER SERGEY BEREZIN","authors":"N.I. Martynova, N.A. Vorobyov, K.F. Boyko, Yu.V. Gutsalo, M.S. Linnik, K.S. Suprun, G.I. Andreev, A.I. Lyubinskiy, E.A. Spiridenko, A.M. Kalesnik","doi":"10.24110/0031-403x-2023-102-3-42-49","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-3-42-49","url":null,"abstract":"Repeated craniospinal irradiation (CSR) is one of the options in the treatment of multifocal recurrences of medulloblastomas (MB), however, it is prescribed to a limited extent due to its toxicity. The use of proton therapy can reduce the toxicity of treatment. Materials and methods used: a single-center retrospective cohort study was conducted in 25 patients (18 (72%) boys/7 (28%) girls) aged 7 to 18 y/o (median 13 (10-14) y/o) in 2019-2023. Repeated CSR was performed for leptomeningeal MB recurrence using a proton beam at the Treatment and Diagnostic Center of the International Institute of Biological Systems named after Sergey Berezin (Saint Petersburg, Russia). The median dose of primary CSR was 35.2 Gy (24-35.2). The median dose of repeated CSR was 30.6 Gy (24-35.2). 23 patients after CSR were given a local boost on the area of metastatic lesions and local recurrence (if any). 7 had previously received courses of repeated radiation therapy for recurrent MB. Results: during the course of the treatment thrombocytopenia was noted with a statistically significant decrease by the 3rd week of treatment (M=97x109/l, p<0.001). The median follow-up was 12.5 months (8-19.5). In 8 patients, progression of the disease was observed, which resulted in the death of 7 of them. In one patient, the appearance of radiation necrosis in the local boost area (left cerebellar peduncle) was noted 5 months after the completion of the repeated irradiation course. The median progression period was 17 months (95% CI 10.8-23.1). Conclusions: proton therapy makes it possible to deliver therapeutic doses for CSR with an acceptable level of hematological toxicity. The obtained data on relapse-free and overall survival indicate the need for further study of the role of repeated CSR and the development of a methodology for calculating the permissible maximum effective dose during the repeated exposure.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135623948","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 : 2023-04-21DOI: 10.24110/0031-403x-2023-102-2-78-89
N. S. Podchernyaeva, M. Osminina, E. Frolkova, M. Kudryashova, M. Gripp, N. Golovanova
Antinuclear antibodies (ANA) are a group of autoantibodies directed against various cell structures such as nucleus, nuclear membrane, mitotic apparatus, components of the cytoplasm and organelles of the cell as well as cell membranes, which has more than 200 varieties. ANA were first discovered in patients with systemic lupus erythematosus (SLE), and ANA-positivity is considered as its diagnostic criterion since then. However, ANA are found highly frequently both in patients with other systemic rheumatic diseases and in healthy people, which determines their relatively low specificity. Determination of the patient's antibody profile is of a greater importance for diagnostic purposes since some ANA are quite highly specific and associated mainly with a single disease e.g., antibodies (abs) to DNA and anti-Sm abs in SLE, abs to topoisomerase I and abs to the centromere with systemic scleroderma and the CREST syndrome. Associations of some types of ANA with variants/subtypes of systemic autoimmune rheumatic diseases (SARDs) with the risk of damage to various organs and systems, the features of the course and prognosis of diseases in this group have been established, which expanded the understanding of the clinical and diagnostic significance of these autoantibodies. The identification of new and further study of the role of already known types of ANA will improve the diagnosis and development of the SARDs’ targeted therapy.
{"title":"CLINICAL AND DIAGNOSTIC VALUE OF ANTINUCLEAR ANTIBODIES IN A PEDIATRIC PHYSICIAN’S PRACTICE (PART 2)","authors":"N. S. Podchernyaeva, M. Osminina, E. Frolkova, M. Kudryashova, M. Gripp, N. Golovanova","doi":"10.24110/0031-403x-2023-102-2-78-89","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-2-78-89","url":null,"abstract":"Antinuclear antibodies (ANA) are a group of autoantibodies directed against various cell structures such as nucleus, nuclear membrane, mitotic apparatus, components of the cytoplasm and organelles of the cell as well as cell membranes, which has more than 200 varieties. ANA were first discovered in patients with systemic lupus erythematosus (SLE), and ANA-positivity is considered as its diagnostic criterion since then. However, ANA are found highly frequently both in patients with other systemic rheumatic diseases and in healthy people, which determines their relatively low specificity. Determination of the patient's antibody profile is of a greater importance for diagnostic purposes since some ANA are quite highly specific and associated mainly with a single disease e.g., antibodies (abs) to DNA and anti-Sm abs in SLE, abs to topoisomerase I and abs to the centromere with systemic scleroderma and the CREST syndrome. Associations of some types of ANA with variants/subtypes of systemic autoimmune rheumatic diseases (SARDs) with the risk of damage to various organs and systems, the features of the course and prognosis of diseases in this group have been established, which expanded the understanding of the clinical and diagnostic significance of these autoantibodies. The identification of new and further study of the role of already known types of ANA will improve the diagnosis and development of the SARDs’ targeted therapy.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85622630","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 : 2023-04-21DOI: 10.24110/0031-403x-2023-102-2-139-146
N. Pechnikova, Y. Ostankova, M. A. Saitgalina, A. Bebyakov, A. Denisova, A. Totolian
Hereditary angioedema (HAE) is a genetically determined disorder accompanied by specific symptoms associated with sporadic subcutaneous and submucosal edema. The described cases of type III HAE not associated with mutations in the SERPING1 gene are characterized by the corresponding clinical picture with normal values and functional activity of the C1-inhibitor. Type III HAE is associated with mutations in the F12, PLG, ANGPT1, KNG1, MYOF, and HS3ST6 genes. Mutations in the MYOF and HS3ST6 genes remain the least studied as yet. And as for the MYOF gene, a single mutation, Arg217Ser, is known to be associated with the development of HAE. The purposes of this research were to study the new missense mutation NC_000010.10:g.95093020C>T in the MYOF gene and predictive assessment of its contribution to the HAE pathogenesis using the bioinformatics analysis. There was a blood sample obtained from a 14 y/o female patient with HAE clinical manifestations and without a decrease in the level and the lack in function of the C1-inhibitor. The research methods included sequencing of the patient's complete exome, bioinformatic analysis of the MYOF gene mutation using a number of databases and Internet resources with the purpose of assessing the conservation of the amino acid position of the substitution and predicting the effect of the mutation on the protein. Results: the girl had a previously undescribed missense mutation NC_000010.10:g.95093020C>T in exon 42 of the MYOF gene (isoform A) in the heterozygous state. The mutation resulted in the replacement of arginine with glutamine at position 1590 of the amino acid sequence (p.Arg1590Gln, rs201619869). The use of bioinformatics analysis allowed assuming the potential pathogenicity of the detected missense mutation, which could cause the observed edema. The possible pathways for the involvement of myoferlin with the detected mutation in the HAE pathogenesis are discussed in the Article. The use of in silico analysis allowed conducting the detailed study of the detected mutation considering its effect on the protein structure, which is the basis of its normal functioning. According to the results of the study, rare mutations in the MYOF gene can be involved in the HAE pathogenesis provoking edema through various cascades of biochemical reactions. In the course of the study, a new missense mutation in the MYOF gene, pathogenetically significant for the HAE development, was described for the first time.
{"title":"PATHOGENICITY ANALYSIS OF THE NEW MISSENSE MUTATION IN THE MYOF GENE DETECTED IN A FEMALE PATIENT WITH HEREDITARY ANGIOEDEMA WITH NORMAL LEVEL OF C1-INHIBITOR","authors":"N. Pechnikova, Y. Ostankova, M. A. Saitgalina, A. Bebyakov, A. Denisova, A. Totolian","doi":"10.24110/0031-403x-2023-102-2-139-146","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-2-139-146","url":null,"abstract":"Hereditary angioedema (HAE) is a genetically determined disorder accompanied by specific symptoms associated with sporadic subcutaneous and submucosal edema. The described cases of type III HAE not associated with mutations in the SERPING1 gene are characterized by the corresponding clinical picture with normal values and functional activity of the C1-inhibitor. Type III HAE is associated with mutations in the F12, PLG, ANGPT1, KNG1, MYOF, and HS3ST6 genes. Mutations in the MYOF and HS3ST6 genes remain the least studied as yet. And as for the MYOF gene, a single mutation, Arg217Ser, is known to be associated with the development of HAE. The purposes of this research were to study the new missense mutation NC_000010.10:g.95093020C>T in the MYOF gene and predictive assessment of its contribution to the HAE pathogenesis using the bioinformatics analysis. There was a blood sample obtained from a 14 y/o female patient with HAE clinical manifestations and without a decrease in the level and the lack in function of the C1-inhibitor. The research methods included sequencing of the patient's complete exome, bioinformatic analysis of the MYOF gene mutation using a number of databases and Internet resources with the purpose of assessing the conservation of the amino acid position of the substitution and predicting the effect of the mutation on the protein. Results: the girl had a previously undescribed missense mutation NC_000010.10:g.95093020C>T in exon 42 of the MYOF gene (isoform A) in the heterozygous state. The mutation resulted in the replacement of arginine with glutamine at position 1590 of the amino acid sequence (p.Arg1590Gln, rs201619869). The use of bioinformatics analysis allowed assuming the potential pathogenicity of the detected missense mutation, which could cause the observed edema. The possible pathways for the involvement of myoferlin with the detected mutation in the HAE pathogenesis are discussed in the Article. The use of in silico analysis allowed conducting the detailed study of the detected mutation considering its effect on the protein structure, which is the basis of its normal functioning. According to the results of the study, rare mutations in the MYOF gene can be involved in the HAE pathogenesis provoking edema through various cascades of biochemical reactions. In the course of the study, a new missense mutation in the MYOF gene, pathogenetically significant for the HAE development, was described for the first time.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90262678","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 : 2023-04-21DOI: 10.24110/0031-403x-2023-102-2-147-152
E. K. Mgdsyan, D. Yukhacheva, V. Burlakov, O. Shvets, E. Viktorova, S. Mann, E. Raikina, N. Shchigoleva, Y. Rodina, A. Shcherbina
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency that refers to defects in the humoral link and is characterized by severe recurrent infectious episodes as well as low concentration of serum immunoglobulins up to their complete absence. BTK (Bruton tyrosine kinase), a protein coding gene is responsible for this disease, whose mutations lead to impaired maturation of B-lymphocytes followed by a defect in antibody production. The survival rate of patients with early diagnosis and timely replacement therapy with intravenous (IVIG) and subcutaneous (SCIG) immunoglobulins is quite high. Though patients in this group are predisposed to immune complications such as IBD-like lesions of the gastrointestinal tract (GIT) in addition to recurrent infectious episodes. The differentiation of such complications if often of diagnostic and therapeutic difficulties. This group of patients is being actively studied at the moment aimed to the search for therapeutic options. The Article represents a bibliographical review and clinical case of the development of IBD-like lesions of the GIT in a patient with XLA.
{"title":"IBD-LIKE LESIONS IN PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA: BIBLIOGRAPHICAL REVIEW AND CLINICAL CASE","authors":"E. K. Mgdsyan, D. Yukhacheva, V. Burlakov, O. Shvets, E. Viktorova, S. Mann, E. Raikina, N. Shchigoleva, Y. Rodina, A. Shcherbina","doi":"10.24110/0031-403x-2023-102-2-147-152","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-2-147-152","url":null,"abstract":"X-linked agammaglobulinemia (XLA) is a primary immunodeficiency that refers to defects in the humoral link and is characterized by severe recurrent infectious episodes as well as low concentration of serum immunoglobulins up to their complete absence. BTK (Bruton tyrosine kinase), a protein coding gene is responsible for this disease, whose mutations lead to impaired maturation of B-lymphocytes followed by a defect in antibody production. The survival rate of patients with early diagnosis and timely replacement therapy with intravenous (IVIG) and subcutaneous (SCIG) immunoglobulins is quite high. Though patients in this group are predisposed to immune complications such as IBD-like lesions of the gastrointestinal tract (GIT) in addition to recurrent infectious episodes. The differentiation of such complications if often of diagnostic and therapeutic difficulties. This group of patients is being actively studied at the moment aimed to the search for therapeutic options. The Article represents a bibliographical review and clinical case of the development of IBD-like lesions of the GIT in a patient with XLA.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76920119","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 : 2023-04-21DOI: 10.24110/0031-403x-2023-102-2-89-99
М. Leonteva, E. Deordieva, G. Solopova, E. S. Nikonova, A. Shcherbina
Spleen is one of the most important peripheral organs of the immune system because it plays a decisive role in the regulation of immune homeostasis due to its ability to bind innate and adaptive immunity. Reduced spleen function (hyposplenia) and asplenia are risk factors for the development of fulminant sepsis caused by encapsulated bacteria such as Streptococcus pneumoniae, Neisseria meningitidis, and Haemophilus influenzae type b. Systematic and long-term treatment approaches after splenectomy can significantly reduce the risk of infection with encapsulated organisms among patients with asplenia and hyposplenism. This bibliographical review represents a few out of the most common forms of asplenia and hyposplenia in the immunologists’, hematologists’ practice and highlights the issue of vaccination and prophylactic antibiotic therapy in this group of patients as well since this aspect is a long-term perspective for preventing of fatal complications.
{"title":"SEVERE INFECTIONS PREVENTION IN PATIENTS WITH ASPLENIA AND HYPOSPLENIA: A BIBLIOGRAPHICAL REVIEW","authors":"М. Leonteva, E. Deordieva, G. Solopova, E. S. Nikonova, A. Shcherbina","doi":"10.24110/0031-403x-2023-102-2-89-99","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-2-89-99","url":null,"abstract":"Spleen is one of the most important peripheral organs of the immune system because it plays a decisive role in the regulation of immune homeostasis due to its ability to bind innate and adaptive immunity. Reduced spleen function (hyposplenia) and asplenia are risk factors for the development of fulminant sepsis caused by encapsulated bacteria such as Streptococcus pneumoniae, Neisseria meningitidis, and Haemophilus influenzae type b. Systematic and long-term treatment approaches after splenectomy can significantly reduce the risk of infection with encapsulated organisms among patients with asplenia and hyposplenism. This bibliographical review represents a few out of the most common forms of asplenia and hyposplenia in the immunologists’, hematologists’ practice and highlights the issue of vaccination and prophylactic antibiotic therapy in this group of patients as well since this aspect is a long-term perspective for preventing of fatal complications.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75891861","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 : 2023-04-21DOI: 10.24110/0031-403x-2023-102-2-41-51
E. Viktorova, N. Kuzmenko, Y. Rodina, A. Mukhina, O. Mironenko, I. Shifrin, А. Shcherbina
Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (HAE-C1-INH) is a rare (orphan) autosomal-dominant disease related to primary immunodeficiencies with a defect in the complement system and is characterized by recurrent, unpredictable edema attacks involving various organs and tissues. The recurrent episodes of edema are not amenable to the usual therapy methods and often are life-threatening conditions, especially in pediatric patients. The most pressing issue for the attending physician is the choice of the drug from the available range, taking into consideration its mechanism of action, route of administration and other parameters. This Article summarizes the properties of drugs currently available for the HAE attacks relief in pediatric patients in Russia, including the results of clinical trials, and the Authors’ own experience in the use of Icatibant and a human C1-esterase inhibitor as drugs of choice for the edema relief in the pediatric patient cohort. The purpose of this retrospective study was to evaluate the equivalence and safety of Icatibant and a C1-inhibitor concentrate for the edema management. Materials and methods used: the study included 34 HAE-C1-INH patients who had experienced 302 attack episodes in total. The inclusion criteria were a registered episode of angioedema in a patient aged 0 up to 18 y/o, confirmed HAE diagnosis and one of the two studying drugs intake within 24 hours after the onset of the first edema symptoms. Patients were administered with Icatibant, subcutaneously, or with C1-esterase inhibitor, intravenously. The efficacy was evaluated by comparing the presence of relief and/or relief of symptoms during the mentioned therapy. All of the adverse reactions during the therapy were also recorded in order to assess the drugs’ safety. Results: a total of 302 attack episodes were analyzed in 34 patients in the period from 2016 to 2021. Icatibant was used in 225 (74.5%) cases in 34 patients, and human C1-esterase inhibitor was used in 77 (25.5%) cases in 27 patients. It was allowed to use both drugs in the same patient in different angioedema episodes. The age of the children included in the analysis at the time of the first episode ranged from 1 to 14 y/o (Me 4.5 y/o). The edema was peripheral in most of the studied cases. The drugs were found to be equivalent in terms of duration until the edema symptoms’ relief (Me duration was 30 min. in both drugs, p=0.005), but not in terms of duration until the symptoms cut-off, - with greater values for Icatibant compared to the C1-inhibitor human esterase (p=0.394). Conclusion: a relatively similar efficacy and safety of both drugs as well as the possibility for their use in all age groups were recorded. It is therefore necessary to take into consideration the availability of the satisfactory venous access when choosing a drug for stopping the edema; the patient’s age (in order to ensure the fastest possible administration of the drug counting from the
{"title":"CUTTING EDEMA ATTACKS WITH THE PATHOGENETIC THERAPY IN CHILDREN WITH HEREDITARY ANGIOEDEMA","authors":"E. Viktorova, N. Kuzmenko, Y. Rodina, A. Mukhina, O. Mironenko, I. Shifrin, А. Shcherbina","doi":"10.24110/0031-403x-2023-102-2-41-51","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-2-41-51","url":null,"abstract":"Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (HAE-C1-INH) is a rare (orphan) autosomal-dominant disease related to primary immunodeficiencies with a defect in the complement system and is characterized by recurrent, unpredictable edema attacks involving various organs and tissues. The recurrent episodes of edema are not amenable to the usual therapy methods and often are life-threatening conditions, especially in pediatric patients. The most pressing issue for the attending physician is the choice of the drug from the available range, taking into consideration its mechanism of action, route of administration and other parameters. This Article summarizes the properties of drugs currently available for the HAE attacks relief in pediatric patients in Russia, including the results of clinical trials, and the Authors’ own experience in the use of Icatibant and a human C1-esterase inhibitor as drugs of choice for the edema relief in the pediatric patient cohort. The purpose of this retrospective study was to evaluate the equivalence and safety of Icatibant and a C1-inhibitor concentrate for the edema management. Materials and methods used: the study included 34 HAE-C1-INH patients who had experienced 302 attack episodes in total. The inclusion criteria were a registered episode of angioedema in a patient aged 0 up to 18 y/o, confirmed HAE diagnosis and one of the two studying drugs intake within 24 hours after the onset of the first edema symptoms. Patients were administered with Icatibant, subcutaneously, or with C1-esterase inhibitor, intravenously. The efficacy was evaluated by comparing the presence of relief and/or relief of symptoms during the mentioned therapy. All of the adverse reactions during the therapy were also recorded in order to assess the drugs’ safety. Results: a total of 302 attack episodes were analyzed in 34 patients in the period from 2016 to 2021. Icatibant was used in 225 (74.5%) cases in 34 patients, and human C1-esterase inhibitor was used in 77 (25.5%) cases in 27 patients. It was allowed to use both drugs in the same patient in different angioedema episodes. The age of the children included in the analysis at the time of the first episode ranged from 1 to 14 y/o (Me 4.5 y/o). The edema was peripheral in most of the studied cases. The drugs were found to be equivalent in terms of duration until the edema symptoms’ relief (Me duration was 30 min. in both drugs, p=0.005), but not in terms of duration until the symptoms cut-off, - with greater values for Icatibant compared to the C1-inhibitor human esterase (p=0.394). Conclusion: a relatively similar efficacy and safety of both drugs as well as the possibility for their use in all age groups were recorded. It is therefore necessary to take into consideration the availability of the satisfactory venous access when choosing a drug for stopping the edema; the patient’s age (in order to ensure the fastest possible administration of the drug counting from the ","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91349909","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 : 2023-04-21DOI: 10.24110/0031-403x-2023-102-2-100-116
D. Chudakov, E. E. Petryaykina, E. S. Demina, S. Lukyanov, A. V. Timofeev
Type 1 diabetes mellitus (DM1) is a world- and widespread disease in children and adolescents caused by the destruction of insulin-producing β-cells in the pancreas. As of today there is only one generally accepted approach to treating DM1, which is the insulin therapy, which in fact is a symptomatic therapy since it is aimed at correcting the outcome of the DM1 pathogenesis through compensation of insulin deficiency and elimination of hyperglycemia. The insulin therapy makes it possible to maintain the acceptable blood glucose levels for decades, but does not prevent the development of severe chronic complications of DM1, which in its turn are the main causes for disability cases and early deaths in such patients. Practitioners and scientists in diabetology are therefore actively searching for the ways to treating DM1 etiologically and pathogenetically. Among such methods there are various promising variants of immunotherapy aimed at prevention or suppression of an autoimmune reaction against β-cells. This review provides the basic information on DM1 and considers the modern approaches to its immunotherapy. The particular attention is paid to immunotherapy using cytotoxic monoclonal antibodies against B-lymphocytes autoreactive towards β-cells.
{"title":"PERSPECTIVES ON THE USE OF ANTI-CD20 IMMUNOTHERAPY IN THE TREATMENT OF TYPE 1 DIABETES MELLITUS IN CHILDREN AND ADOLESCENTS (ANALYTICAL REVIEW)","authors":"D. Chudakov, E. E. Petryaykina, E. S. Demina, S. Lukyanov, A. V. Timofeev","doi":"10.24110/0031-403x-2023-102-2-100-116","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-2-100-116","url":null,"abstract":"Type 1 diabetes mellitus (DM1) is a world- and widespread disease in children and adolescents caused by the destruction of insulin-producing β-cells in the pancreas. As of today there is only one generally accepted approach to treating DM1, which is the insulin therapy, which in fact is a symptomatic therapy since it is aimed at correcting the outcome of the DM1 pathogenesis through compensation of insulin deficiency and elimination of hyperglycemia. The insulin therapy makes it possible to maintain the acceptable blood glucose levels for decades, but does not prevent the development of severe chronic complications of DM1, which in its turn are the main causes for disability cases and early deaths in such patients. Practitioners and scientists in diabetology are therefore actively searching for the ways to treating DM1 etiologically and pathogenetically. Among such methods there are various promising variants of immunotherapy aimed at prevention or suppression of an autoimmune reaction against β-cells. This review provides the basic information on DM1 and considers the modern approaches to its immunotherapy. The particular attention is paid to immunotherapy using cytotoxic monoclonal antibodies against B-lymphocytes autoreactive towards β-cells.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80510406","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 : 2023-04-21DOI: 10.24110/0031-403x-2023-102-2-11-33
S. Voronin, R. Zinchenko, I. Efimova, S. Kutsev, A. Marakhonov, A. Mukhina, G. Novichkova, D. Pershin, Y. Rodina, A. G. Rumyantsev, A. Shcherbina
For citation: S.V. Voronin, R.A. Zinchenko, I.Yu. Efimova, S.I. Kutsev, A.V. Marakhonov, A.A. Mukhina, G.A. Novichkova, D.E. Pershin, Yu.A. Rodina, A.G. Rumyantsev, A.Yu. Shcherbina. Neonatal screening, postnatal diagnosis and tactics of preclinical treatment and prevention of primary immunodeficiencies in children. Guidelines by the experts from the National Association of Experts in Primary Immunodeficiencies (NAEPID) and the Association of Medical Genetics (AMG) of Russia. Pediatria n.a. G.N. Speransky. 2023; 102 (2): 11-33. DOI: 10.24110/0031-403X-2023-102-2-11-33.
{"title":"NEONATAL SCREENING, POSTNATAL DIAGNOSIS AND TACTICS OF PRECLINICAL TREATMENT AND PREVENTION OF PRIMARY IMMUNODEFICIENCIES IN CHILDREN. GUIDELINES BY THE EXPERTS FROM THE NATIONAL ASSOCIATION OF EXPERTS IN PRIMARY IMMUNODEFICIENCIES (NAEPID) AND THE ASSOCIATION OF MEDICAL GENETICS (AMG) OF RUSSIA","authors":"S. Voronin, R. Zinchenko, I. Efimova, S. Kutsev, A. Marakhonov, A. Mukhina, G. Novichkova, D. Pershin, Y. Rodina, A. G. Rumyantsev, A. Shcherbina","doi":"10.24110/0031-403x-2023-102-2-11-33","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-2-11-33","url":null,"abstract":"For citation: S.V. Voronin, R.A. Zinchenko, I.Yu. Efimova, S.I. Kutsev, A.V. Marakhonov, A.A. Mukhina, G.A. Novichkova, D.E. Pershin, Yu.A. Rodina, A.G. Rumyantsev, A.Yu. Shcherbina. Neonatal screening, postnatal diagnosis and tactics of preclinical treatment and prevention of primary immunodeficiencies in children. Guidelines by the experts from the National Association of Experts in Primary Immunodeficiencies (NAEPID) and the Association of Medical Genetics (AMG) of Russia. Pediatria n.a. G.N. Speransky. 2023; 102 (2): 11-33. DOI: 10.24110/0031-403X-2023-102-2-11-33.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75754059","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}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：