Pub Date : 2023-07-16DOI: 10.21682/2311-1267-2023-10-2-44-53
E. Zhukovskaya, N. Y. Filippova, D. A. Volkov, A. F. Karelin
Background. The success of pediatric oncohematology makes the rehabilitation of cured patients more and more relevant. Physiotherapy for cancer patients is an underdeveloped method of treatment.The purpose of the study – to analyze the use of physiotherapy techniques in the rehabilitation practice of pediatric oncologists, hematologists.Materials and methods. The authors completed their research based on the materials of the activities of the Department of Physiotherapy of the Clinical Rehabilitation Research Center “Russian Field” for the period 2018–2021.Results and discussion. Approximately 2,000 patients per year with oncohematological diseases during the period of remission receive evidence-based physiotherapeutic methods of treatment (electrotherapy, inhalations, magnetotherapy, balneotherapy, massage). Doctors note the effectiveness and safety of the therapy.Conclusion. Knowledge of the evidence-based basis of physiotherapy treatment allows doctors to choose an adequate method and increase the effectiveness of rehabilitation.
{"title":"Possibilities of physiotherapy in the rehabilitation of children and adolescents who have undergone oncohematological diseases","authors":"E. Zhukovskaya, N. Y. Filippova, D. A. Volkov, A. F. Karelin","doi":"10.21682/2311-1267-2023-10-2-44-53","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-2-44-53","url":null,"abstract":"Background. The success of pediatric oncohematology makes the rehabilitation of cured patients more and more relevant. Physiotherapy for cancer patients is an underdeveloped method of treatment.The purpose of the study – to analyze the use of physiotherapy techniques in the rehabilitation practice of pediatric oncologists, hematologists.Materials and methods. The authors completed their research based on the materials of the activities of the Department of Physiotherapy of the Clinical Rehabilitation Research Center “Russian Field” for the period 2018–2021.Results and discussion. Approximately 2,000 patients per year with oncohematological diseases during the period of remission receive evidence-based physiotherapeutic methods of treatment (electrotherapy, inhalations, magnetotherapy, balneotherapy, massage). Doctors note the effectiveness and safety of the therapy.Conclusion. Knowledge of the evidence-based basis of physiotherapy treatment allows doctors to choose an adequate method and increase the effectiveness of rehabilitation.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"46 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87706225","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 : 2023-07-16DOI: 10.21682/2311-1267-2023-10-2-34-43
E. Zelenova, V. Kozlova, O. V. Yugay, Yu A Kyun, T. Ushakova, S. Mikhailova, E. Alekseeva, V. Musatova
Retinoblastoma (RB) is one of the most common malignant neoplasms of the visual organ in children, with an established genetic factor in the development of the disease. The detection of mutations in the RB1 gene has been successfully carried out for many years, however, the development of technologies for DNA diagnostics of RB allows us to consider this disease not only as an independent tumor, but also as one of the manifestations of more complicated genetic syndromes involving a complex of genes. The correct genetic diagnosis is important to understand the prognosis of the health of a patient with RB and recommendations for his further observation, as well as a correct assessment of the risks of having children with the same pathology in the family.Currently available methods of DNA diagnostics of the RB1 gene are new generation sequencing (NGS) and multiplex amplification of ligated probes (MLPA). However, in some cases, additional diagnostics may be required – a karyotype study or chromosomal micromatrix analysis (CMA). In this article we present a molecular genetic study of children with uni- and bilateral RB with an extended deletion at the RB1 gene locus. The aim of the study was determining of possible indications for the appointment of extended DNA diagnostics.
{"title":"Features of molecular genetic diagnosis of retinoblastoma","authors":"E. Zelenova, V. Kozlova, O. V. Yugay, Yu A Kyun, T. Ushakova, S. Mikhailova, E. Alekseeva, V. Musatova","doi":"10.21682/2311-1267-2023-10-2-34-43","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-2-34-43","url":null,"abstract":"Retinoblastoma (RB) is one of the most common malignant neoplasms of the visual organ in children, with an established genetic factor in the development of the disease. The detection of mutations in the RB1 gene has been successfully carried out for many years, however, the development of technologies for DNA diagnostics of RB allows us to consider this disease not only as an independent tumor, but also as one of the manifestations of more complicated genetic syndromes involving a complex of genes. The correct genetic diagnosis is important to understand the prognosis of the health of a patient with RB and recommendations for his further observation, as well as a correct assessment of the risks of having children with the same pathology in the family.Currently available methods of DNA diagnostics of the RB1 gene are new generation sequencing (NGS) and multiplex amplification of ligated probes (MLPA). However, in some cases, additional diagnostics may be required – a karyotype study or chromosomal micromatrix analysis (CMA). In this article we present a molecular genetic study of children with uni- and bilateral RB with an extended deletion at the RB1 gene locus. The aim of the study was determining of possible indications for the appointment of extended DNA diagnostics.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"48 4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89600988","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 : 2023-07-16DOI: 10.21682/2311-1267-2023-10-2-28-33
A. Kotelnikova, V. Yarovaya, T. Ushakova, E. P. Sudakova, A. D. Matyaeva, A. G. Galbatsova, A. Yarovoy
Relevance. Currently there are various methods of organ-preserving treatment of retinoblastoma (RB), but nevertheless, eyeball enucleation remains one of the main methods of its treating. After removal of the eyeball, children face cosmetic problems such as anophthalmic syndrome, lag in the growth of orbital bones, as well as psychosocial problems. After the introduction of magnetic resonance imaging into a wide medical practice, children with RB began to undergo primary endoprosthesis of the orbit using porous polytetrafluoroethylene implants or non-porous silicone implants, which proved to be an effective method of cosmetic rehabilitation.The purpose of the study – to present our own experience in the use of primary orbital endoprosthesis in children with RB with the use of a silicone implant.Materials and methods. The study included 29 children (29 eyes) who underwent primary endoprosthesis of the orbit after enucleation for RB using a silicone implant (Plastis-M) wrapped in a dacron mesh. Written consent was received from all patients for the processing of personal data, diagnostic examination and treatment. The median age of patients at the time of enucleation was 32.7 (2–93) months. Silicone implants with a diameter of 16 mm (n = 4, 13.8 %), 17 mm (n = 13, 44.8 %) and 18 mm (n = 12, 41.4 %) were used. In most cases (n = 19, 65.5 %) enucleation was performed due to the inability to use organ–preserving treatment, due to the widespread intraocular tumor process, in 7 (24.1 %) cases enucleation was performed due to tumor progression against the background of ongoing treatment, and in 3 (10.3 %) – due to complications that occurred after treatment, namely subatrophy of the eyeball.Results. A satisfactory cosmetic result and a symmetrical look were achieved in all cases. The difference in the endurance of the prosthetic and paired eyes according to exophthalmometry was up to 2 mm. The thickness of the well-developed musculoskeletal stump was 1.5 (0.84–2.74) mm.Conclusions. A silicone implant wrapped in a dacron mesh endoprosthesis provides a stable and cosmetically satisfactory condition of the musculoskeletal stump in children with RB. Replacement of a silicone implant for cosmetic purposes is possible in children who are under regular dynamic control with complete remission of the tumor.
{"title":"Primary endoprosthetics of the orbit with a silicone implant in patients with retinoblastoma","authors":"A. Kotelnikova, V. Yarovaya, T. Ushakova, E. P. Sudakova, A. D. Matyaeva, A. G. Galbatsova, A. Yarovoy","doi":"10.21682/2311-1267-2023-10-2-28-33","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-2-28-33","url":null,"abstract":"Relevance. Currently there are various methods of organ-preserving treatment of retinoblastoma (RB), but nevertheless, eyeball enucleation remains one of the main methods of its treating. After removal of the eyeball, children face cosmetic problems such as anophthalmic syndrome, lag in the growth of orbital bones, as well as psychosocial problems. After the introduction of magnetic resonance imaging into a wide medical practice, children with RB began to undergo primary endoprosthesis of the orbit using porous polytetrafluoroethylene implants or non-porous silicone implants, which proved to be an effective method of cosmetic rehabilitation.The purpose of the study – to present our own experience in the use of primary orbital endoprosthesis in children with RB with the use of a silicone implant.Materials and methods. The study included 29 children (29 eyes) who underwent primary endoprosthesis of the orbit after enucleation for RB using a silicone implant (Plastis-M) wrapped in a dacron mesh. Written consent was received from all patients for the processing of personal data, diagnostic examination and treatment. The median age of patients at the time of enucleation was 32.7 (2–93) months. Silicone implants with a diameter of 16 mm (n = 4, 13.8 %), 17 mm (n = 13, 44.8 %) and 18 mm (n = 12, 41.4 %) were used. In most cases (n = 19, 65.5 %) enucleation was performed due to the inability to use organ–preserving treatment, due to the widespread intraocular tumor process, in 7 (24.1 %) cases enucleation was performed due to tumor progression against the background of ongoing treatment, and in 3 (10.3 %) – due to complications that occurred after treatment, namely subatrophy of the eyeball.Results. A satisfactory cosmetic result and a symmetrical look were achieved in all cases. The difference in the endurance of the prosthetic and paired eyes according to exophthalmometry was up to 2 mm. The thickness of the well-developed musculoskeletal stump was 1.5 (0.84–2.74) mm.Conclusions. A silicone implant wrapped in a dacron mesh endoprosthesis provides a stable and cosmetically satisfactory condition of the musculoskeletal stump in children with RB. Replacement of a silicone implant for cosmetic purposes is possible in children who are under regular dynamic control with complete remission of the tumor.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74502659","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 : 2023-07-14DOI: 10.21682/2311-1267-2023-10-2-11-27
L. A. Smirnova, A. Mitrofanova, N. Merkulov, M. Teleshova, D. Akhaladze, N. Uskova, A. Shapochnik, M. Rakov, A. A. Rumyantsev, I. Fisyun, D. Sakun, G. R. Kazaryan, A. P. Troitskaya, E. Erega, E. Bogatyreva, V. B. Makhonin, M. Borisova, I. V. Osipova, I. N. Skapenkov, N. S. Grachev, T. Shamanskaya, D. Konovalov, D. Kachanov
Introduction. Renal cell carcinoma (RCC) is a rare malignant renal tumor in children, which accounts for 2–4 % of pediatric and adolescent’s kidney malignancies. A number of recent studies have shown that RCC developing in pediatric age differs in the spectrum of histological variants, clinical course and prognosis from RCC in adult patients.The aim of the study – retrospective analysis of the clinical and morphological characteristics of RCC, as well as the results of therapy of patients with a diagnosis verified in the Department of Pathology in Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia (Center).Materials and methods. Retrospective analysis of patients with a histologically confirmed diagnosis RCC for the period 01.2012–05.2022 was done. During the specified period of time in the Department of Pathology in Center 42 patients with a confirmed diagnosis of RCC aged 0 to 18 years were registered. Out of 42 registered patients with RСС, 28 patients with known clinical data were included in this analysis, of which 11 patients underwent primary surgical treatment in Center. Demographic characteristics, clinical data, morphological variants of RCC, the volume of therapy performed, including the features of the performed surgical intervention were analyzed. The assessment of stage was carried out according to the TNM classification. Patients were treated according to the protocols of the SIOP-RTSG group (SIOP 93-01, SIOP-2001, SIOP-RTSG-2016). The analysis of the results was carried out on 01.06.2022.Results. In the general group of patients (n = 42), the distribution by histological types was presented as follows: papillary type – in 16/42 (38.0 %), translocation type – in 12/42 (28.6 %), clear cell type – in 5/42 (11.9 %), chromophobic type – in 4/42 (9.5 %), RCC with succinate dehydrogenase deficiency – in 2/42 (4.8 %), translocation type in combination with papillary type – in 1/42 (2.4 %), tubulocystic type – in 1/42 (2.4 %), unspecified type – in 1/42 (2.4 %). A subsequent in-depth analysis was performed on a group of 28 patients. The median age at the time of diagnosis of RCC was 11.0 years (range – 3.0–16.9). The male:female ratio was 1.1:1. The median tumor volume (n = 27) was 44 cm3 (range 1.8–547.7 cm3 ). The clinical picture included palpable formation in the abdominal cavity (n = 5), intoxication syndrome (n = 5), pain (n = 4), enuresis (n = 1), macrohematuria (n = 1), in 12 cases the tumor was detected accidentally. The duration from the onset of the first symptoms/detection of the tumor to the diagnosis was 2.5 months (range 0.5–40.3 months). Distribution by clinical stages according to the TNM system: stage T1 – 22 (78.5 %) cases, T2 – 4 (14.3 %) cases, T3 – 1 (3.6 %), Tx – 1 (3.6 %) case. According to the results of postsurgical staging, the following distribution by stages N was noted: N0 – 15 (53.6 %) cases, N1 – 4 (14.3 %) cases, Nx – 9 (32.1 %) ca
{"title":"Renal cell carcinoma in children: the results of retrospective analysis","authors":"L. A. Smirnova, A. Mitrofanova, N. Merkulov, M. Teleshova, D. Akhaladze, N. Uskova, A. Shapochnik, M. Rakov, A. A. Rumyantsev, I. Fisyun, D. Sakun, G. R. Kazaryan, A. P. Troitskaya, E. Erega, E. Bogatyreva, V. B. Makhonin, M. Borisova, I. V. Osipova, I. N. Skapenkov, N. S. Grachev, T. Shamanskaya, D. Konovalov, D. Kachanov","doi":"10.21682/2311-1267-2023-10-2-11-27","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-2-11-27","url":null,"abstract":"Introduction. Renal cell carcinoma (RCC) is a rare malignant renal tumor in children, which accounts for 2–4 % of pediatric and adolescent’s kidney malignancies. A number of recent studies have shown that RCC developing in pediatric age differs in the spectrum of histological variants, clinical course and prognosis from RCC in adult patients.The aim of the study – retrospective analysis of the clinical and morphological characteristics of RCC, as well as the results of therapy of patients with a diagnosis verified in the Department of Pathology in Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia (Center).Materials and methods. Retrospective analysis of patients with a histologically confirmed diagnosis RCC for the period 01.2012–05.2022 was done. During the specified period of time in the Department of Pathology in Center 42 patients with a confirmed diagnosis of RCC aged 0 to 18 years were registered. Out of 42 registered patients with RСС, 28 patients with known clinical data were included in this analysis, of which 11 patients underwent primary surgical treatment in Center. Demographic characteristics, clinical data, morphological variants of RCC, the volume of therapy performed, including the features of the performed surgical intervention were analyzed. The assessment of stage was carried out according to the TNM classification. Patients were treated according to the protocols of the SIOP-RTSG group (SIOP 93-01, SIOP-2001, SIOP-RTSG-2016). The analysis of the results was carried out on 01.06.2022.Results. In the general group of patients (n = 42), the distribution by histological types was presented as follows: papillary type – in 16/42 (38.0 %), translocation type – in 12/42 (28.6 %), clear cell type – in 5/42 (11.9 %), chromophobic type – in 4/42 (9.5 %), RCC with succinate dehydrogenase deficiency – in 2/42 (4.8 %), translocation type in combination with papillary type – in 1/42 (2.4 %), tubulocystic type – in 1/42 (2.4 %), unspecified type – in 1/42 (2.4 %). A subsequent in-depth analysis was performed on a group of 28 patients. The median age at the time of diagnosis of RCC was 11.0 years (range – 3.0–16.9). The male:female ratio was 1.1:1. The median tumor volume (n = 27) was 44 cm3 (range 1.8–547.7 cm3 ). The clinical picture included palpable formation in the abdominal cavity (n = 5), intoxication syndrome (n = 5), pain (n = 4), enuresis (n = 1), macrohematuria (n = 1), in 12 cases the tumor was detected accidentally. The duration from the onset of the first symptoms/detection of the tumor to the diagnosis was 2.5 months (range 0.5–40.3 months). Distribution by clinical stages according to the TNM system: stage T1 – 22 (78.5 %) cases, T2 – 4 (14.3 %) cases, T3 – 1 (3.6 %), Tx – 1 (3.6 %) case. According to the results of postsurgical staging, the following distribution by stages N was noted: N0 – 15 (53.6 %) cases, N1 – 4 (14.3 %) cases, Nx – 9 (32.1 %) ca","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84132510","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 : 2023-06-30DOI: 10.46563/1560-9561-2023-26-3-152-158
L. A. Gandaeva, E. Basargina
Introduction. In 2006, the American Heart Association identified two main groups of cardiomyopathies (CM) as primary and secondary, referring to the primary CM heart diseases of genetic, acquired or mixed etiology, and to the secondary — pathological involvement of the myocardium as a part of a systemic pathology. Aim: to determine the most common phenocopies of hypertrophic CM (HCM) in children, due to the accumulation of pathological substances in the myocardium and present their differences. Materials and methods. Instrumental diagnostic methods (echocardiography, electrocardiography, 24-hour Holter ECG monitoring), laboratory tests (N-terminal propeptide of natriuretic hormone, creatine phosphokinase, creatine phosphokinase-MB, lactate dehydrogenase, aspartate aminotransferase, alanine aminotransferase, lactate, ammonia), and molecular genetic tests were used. Results. Nucleotide variants in non-sarcomeric genes causing myocardial hypertrophy were identified in one hundred four (39%) patients: infiltrative diseases with heart damage were diagnosed in 46 cases, syndromes from the RAS-pathy group were diagnosed in 58 cases. Patients with storage diseases included 12 children with Pompe disease, 2 cases with PRKAG2 syndrome, 11 cases had Danon disease, 15 — Corey–Forbes disease, and 6 — Friedreich ataxia. Adverse events were reported in group of patients with Pompe disease (9 deaths), and with Danon’s disease (2 deaths). Conclusion. The phenocopy varieties of HCM in children are represented by a wide variety of genetic variants and often by diseases from the group of glycogen metabolism disorders, fatty acid oxidation disorders, and mitochondrial diseases. Identification of the genetic causes of ventricular myocardial hypertrophy in children is the key to early diagnosis of rare diseases, timely and adequate treatment, as well as predicting the course and outcome of the disease.
介绍。2006年，美国心脏协会确定了两组主要的心肌病(CM)为原发性和继发性，指的是遗传性、获得性或混合性的原发性心肌病心脏病，以及作为全身病理一部分的心肌的继发性病理参与。目的:探讨儿童肥厚性CM (hypertrophic CM, HCM)最常见的病理物质在心肌内积聚的表型，并探讨其差异。材料和方法。仪器诊断方法(超声心动图、心电图、24小时动态心电图监测)、实验室检测(利钠激素n端前肽、肌酸磷酸激酶、肌酸磷酸激酶- mb、乳酸脱氢酶、天冬氨酸转氨酶、丙氨酸转氨酶、乳酸、氨)和分子遗传学检测。结果。在104例(39%)患者中发现了导致心肌肥大的非肉瘤基因的核苷酸变异，其中46例诊断为浸润性疾病伴心脏损害，58例诊断为ras -病变组综合征。积贮病患儿中，Pompe病患儿12例，PRKAG2综合征患儿2例，Danon病患儿11例，Corey-Forbes病患儿15例，friedrreich共济失调患儿6例。在Pompe病组(9例死亡)和Danon病组(2例死亡)中报告了不良事件。结论。儿童HCM的表型变化表现为各种各样的遗传变异，通常表现为糖原代谢障碍、脂肪酸氧化障碍和线粒体疾病。确定儿童室性心肌肥厚的遗传原因是早期诊断罕见病、及时充分治疗以及预测病程和转归的关键。
{"title":"Hypertrophic cardiomyopathy in the structure of infiltrative diseases in children","authors":"L. A. Gandaeva, E. Basargina","doi":"10.46563/1560-9561-2023-26-3-152-158","DOIUrl":"https://doi.org/10.46563/1560-9561-2023-26-3-152-158","url":null,"abstract":"Introduction. In 2006, the American Heart Association identified two main groups of cardiomyopathies (CM) as primary and secondary, referring to the primary CM heart diseases of genetic, acquired or mixed etiology, and to the secondary — pathological involvement of the myocardium as a part of a systemic pathology. \u0000Aim: to determine the most common phenocopies of hypertrophic CM (HCM) in children, due to the accumulation of pathological substances in the myocardium and present their differences. \u0000Materials and methods. Instrumental diagnostic methods (echocardiography, electrocardiography, 24-hour Holter ECG monitoring), laboratory tests (N-terminal propeptide of natriuretic hormone, creatine phosphokinase, creatine phosphokinase-MB, lactate dehydrogenase, aspartate aminotransferase, alanine aminotransferase, lactate, ammonia), and molecular genetic tests were used. \u0000Results. Nucleotide variants in non-sarcomeric genes causing myocardial hypertrophy were identified in one hundred four (39%) patients: infiltrative diseases with heart damage were diagnosed in 46 cases, syndromes from the RAS-pathy group were diagnosed in 58 cases. Patients with storage diseases included 12 children with Pompe disease, 2 cases with PRKAG2 syndrome, 11 cases had Danon disease, 15 — Corey–Forbes disease, and 6 — Friedreich ataxia. Adverse events were reported in group of patients with Pompe disease (9 deaths), and with Danon’s disease (2 deaths). \u0000Conclusion. The phenocopy varieties of HCM in children are represented by a wide variety of genetic variants and often by diseases from the group of glycogen metabolism disorders, fatty acid oxidation disorders, and mitochondrial diseases. Identification of the genetic causes of ventricular myocardial hypertrophy in children is the key to early diagnosis of rare diseases, timely and adequate treatment, as well as predicting the course and outcome of the disease.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"43 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86614898","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 : 2023-06-27DOI: 10.46563/1560-9561-2023-26-3-227-230
N. Zokirov, I. V. Zyabkin, E. P. Isaeva, V. V. Sytkov, Aleksandra V. Krutova, Yuliya S. Nikolaeva, Valeriy A. Mukhortykh
Introduction. Roifman syndrome is a rare hereditary autosomal recessive disease, often associated with primary immunodeficiency and spondyloepiphyseal dysplasia. The cause of the disease is a splicing disorder due to a mutation of the RNU4ATAC gene with the formation of an incorrect protein structure, which in turn leads to clinical polymorphism. Purpose: demonstration of own clinical observation of the 5-year girl with Roifman syndrome. Materials and methods. An analysis of the literature on the stigmas of dysembriogenesis, clinical manifestations, changes in the immune system that determine the formation of Roifman syndrome was carried out. Results. The features of the course and variability of manifestations in the particular patient with Roifman syndrome are described. The variety and non-specificity of clinical symptoms in Roifman syndrome in the 5-year girl is shown. Timely diagnosis after complete sequencing by Sanger made it possible to identify a complex heterozygous mutation in the RNU4ATAC gene and start adequate therapy.
{"title":"Variability of clinical manifestations in the child with Roifman syndrome","authors":"N. Zokirov, I. V. Zyabkin, E. P. Isaeva, V. V. Sytkov, Aleksandra V. Krutova, Yuliya S. Nikolaeva, Valeriy A. Mukhortykh","doi":"10.46563/1560-9561-2023-26-3-227-230","DOIUrl":"https://doi.org/10.46563/1560-9561-2023-26-3-227-230","url":null,"abstract":"Introduction. Roifman syndrome is a rare hereditary autosomal recessive disease, often associated with primary immunodeficiency and spondyloepiphyseal dysplasia. The cause of the disease is a splicing disorder due to a mutation of the RNU4ATAC gene with the formation of an incorrect protein structure, which in turn leads to clinical polymorphism. \u0000Purpose: demonstration of own clinical observation of the 5-year girl with Roifman syndrome. \u0000Materials and methods. An analysis of the literature on the stigmas of dysembriogenesis, clinical manifestations, changes in the immune system that determine the formation of Roifman syndrome was carried out. \u0000Results. The features of the course and variability of manifestations in the particular patient with Roifman syndrome are described. The variety and non-specificity of clinical symptoms in Roifman syndrome in the 5-year girl is shown. Timely diagnosis after complete sequencing by Sanger made it possible to identify a complex heterozygous mutation in the RNU4ATAC gene and start adequate therapy.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87674421","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 : 2023-06-27DOI: 10.46563/1560-9561-2023-26-3-212-217
T. Polivanova, V. A. Vshivkov, K. A. Anikina
The review shows the relationship of vitamin D deficiency (VDD) with various forms of pathology of the gastrointestinal tract. The VDD prevalence in Russia has regional and age characteristics and reaches 42%. In addition to the key role as a regulator of calcium metabolism, which ensures the growth and formation of the structure of bone tissue, vitamin D was established to affect the course of various forms of pathology of the gastrointestinal tract. At the same time, it acts as a regulator of innate immunity. In other cases, the effects of vitamin D are aimed at activating anti-inflammatory factors, which determine its positive effect on the course of diseases through antioxidant action. Data on the VDD impact on the formation of various forms of intestinal pathology with an inflammatory and immune mechanism of development are presented. The authors point to the VDD impact in inflammatory bowel diseases. Regardless of the VDD primacy of inflammatory bowel disease, the correction of the VDD has a pronounced positive effect on the course of the disease.
{"title":"Vitamin D deficiency in children and pathology of the digestive system","authors":"T. Polivanova, V. A. Vshivkov, K. A. Anikina","doi":"10.46563/1560-9561-2023-26-3-212-217","DOIUrl":"https://doi.org/10.46563/1560-9561-2023-26-3-212-217","url":null,"abstract":"The review shows the relationship of vitamin D deficiency (VDD) with various forms of pathology of the gastrointestinal tract. The VDD prevalence in Russia has regional and age characteristics and reaches 42%. In addition to the key role as a regulator of calcium metabolism, which ensures the growth and formation of the structure of bone tissue, vitamin D was established to affect the course of various forms of pathology of the gastrointestinal tract. At the same time, it acts as a regulator of innate immunity. In other cases, the effects of vitamin D are aimed at activating anti-inflammatory factors, which determine its positive effect on the course of diseases through antioxidant action. Data on the VDD impact on the formation of various forms of intestinal pathology with an inflammatory and immune mechanism of development are presented. The authors point to the VDD impact in inflammatory bowel diseases. Regardless of the VDD primacy of inflammatory bowel disease, the correction of the VDD has a pronounced positive effect on the course of the disease.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"38 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81277262","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 : 2023-06-27DOI: 10.46563/1560-9561-2023-26-3-178-186
M.O. Prokhorenkova, A. Potapov, G. A. Korolev, A. Vinokurova, Kristina M. Nosenko, M. Lokhmatov, A. Fisenko
Introduction. The use of non-invasive methods for examining patients with endoscopic remission can be useful in identifying the need for endoscopic interventions and assessing disease activity over time. Materials and methods. We analyzed two hundred thirty two medical histories of children with Crohn’s disease (CD) who were examined and treated at the National Medical Research Center for Children’s Health. The relationship between the CD simple endoscopic score (SES-CD) and the newly developed mucosal inflammation noninvasive index (MINI) was determined. Similarly, data from 80 children with ulcerative colitis were examined to identify correlations between the ulcerative colitis endoscopic index of severity (UCEIS) and MINI. Results. Among all forms of Crohn’s disease, a direct strong correlation was found between MINI and SES-CD (R = 0.81, p < 0.001). A MINI value > 5 indicated the absence of mucosal healing (SES-CD > 2 points) with a sensitivity of 73% and a specificity of 84%, and a MINI value ≥13 predicted high activity of Crohn’s disease (SES-CD ≥ 16 points) with sensitivity and specificity of 79% and 88%, respectively. The correlation between MINI and UCEIS in patients with ulcerative colitis revealed an average relationship, which requires further modification of the index in accordance with the characteristics of the course of the disease. Conclusion. The newly developed MINI is a simple and intuitive tool for assessing mucosal inflammation in CD children.
介绍。使用非侵入性方法检查内窥镜缓解患者，可用于确定内窥镜干预的需要和评估疾病活动随时间的变化。材料和方法。我们分析了在国家儿童健康医学研究中心接受检查和治疗的232名克罗恩病(CD)儿童的病史。确定CD简单内镜评分(SES-CD)与新建立的粘膜炎症无创指数(MINI)的关系。同样，80名患有溃疡性结肠炎的儿童的数据被检查，以确定溃疡性结肠炎内镜严重程度指数(UCEIS)和MINI之间的相关性。结果。在所有形式的克罗恩病中，MINI和SES-CD之间存在直接的强相关性(R = 0.81, p < 0.001)。MINI值> 5表示没有粘膜愈合(SES-CD > 2分)，敏感性为73%，特异性为84%;MINI值≥13表示克罗恩病高活性(SES-CD≥16分)，敏感性为79%，特异性为88%。溃疡性结肠炎患者MINI与UCEIS的相关性为平均关系，需根据病程特点进一步修改指标。结论。新开发的MINI是一种简单直观的工具，用于评估乳糜泻儿童的粘膜炎症。
{"title":"Clinical significance of the noninvasive mucosal inflammation index for assessing the endoscopic activity of Crohn’s disease in children","authors":"M.O. Prokhorenkova, A. Potapov, G. A. Korolev, A. Vinokurova, Kristina M. Nosenko, M. Lokhmatov, A. Fisenko","doi":"10.46563/1560-9561-2023-26-3-178-186","DOIUrl":"https://doi.org/10.46563/1560-9561-2023-26-3-178-186","url":null,"abstract":"Introduction. The use of non-invasive methods for examining patients with endoscopic remission can be useful in identifying the need for endoscopic interventions and assessing disease activity over time. \u0000Materials and methods. We analyzed two hundred thirty two medical histories of children with Crohn’s disease (CD) who were examined and treated at the National Medical Research Center for Children’s Health. The relationship between the CD simple endoscopic score (SES-CD) and the newly developed mucosal inflammation noninvasive index (MINI) was determined. Similarly, data from 80 children with ulcerative colitis were examined to identify correlations between the ulcerative colitis endoscopic index of severity (UCEIS) and MINI. \u0000Results. Among all forms of Crohn’s disease, a direct strong correlation was found between MINI and SES-CD (R = 0.81, \u0000p < 0.001). A MINI value > 5 indicated the absence of mucosal healing (SES-CD > 2 points) with a sensitivity of 73% and a specificity of 84%, and a MINI value ≥13 predicted high activity of Crohn’s disease (SES-CD ≥ 16 points) with sensitivity and specificity of 79% and 88%, respectively. The correlation between MINI and UCEIS in patients with ulcerative colitis revealed an average relationship, which requires further modification of the index in accordance with the characteristics of the course of the disease. \u0000Conclusion. The newly developed MINI is a simple and intuitive tool for assessing mucosal inflammation in CD children.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"60 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84184049","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 : 2023-06-27DOI: 10.46563/1560-9561-2023-26-3-222-226
Z. Sadeeva, I. Novikova, Natalya M. Alyabyeva, Anna V. Lazareva
Serratia marcescens (SM) is among the most relevant pathogens of opportunistic infections. This review contains an analysis of the literature data on the importance of serrations in medical practice. Molecular genetic predictors of virulence and antibiotic resistance of this pathogen were analyzed in detail. The review discusses the main methods of typing SM. Various local and generalized s of infections caused by SM are described.
{"title":"Serratia marcescens: microbiological characterization, resistance properties, virulence and clinical relevance","authors":"Z. Sadeeva, I. Novikova, Natalya M. Alyabyeva, Anna V. Lazareva","doi":"10.46563/1560-9561-2023-26-3-222-226","DOIUrl":"https://doi.org/10.46563/1560-9561-2023-26-3-222-226","url":null,"abstract":"Serratia marcescens (SM) is among the most relevant pathogens of opportunistic infections. This review contains an analysis of the literature data on the importance of serrations in medical practice. Molecular genetic predictors of virulence and antibiotic resistance of this pathogen were analyzed in detail. The review discusses the main methods of typing SM. Various local and generalized s of infections caused by SM are described.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"98 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76078644","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 : 2023-06-27DOI: 10.46563/1560-9561-2023-26-3-199-204
R. Terletskaya, A. V. Lashkova, V. Chernikov, I. Vinyarskaya, L. Kuzenkova
The aim is to identify, through a sociological survey of legitimate representatives of children with autism spectrum disorders (ASD), the problems that they face in their lives, to further improve the provision of medical and social assistance. Materials and methods. A survey of legal representatives of ASD minors (aged 1–11 years) was conducted. Results. The study of the living conditions of a child with autism in the family, the assessment by parents of his state of health, problems arising in the registration of disability, in the provision of medical and rehabilitation assistance and issues of medical and social support made it possible to determine the situation of this group of the child population in modern medical and social conditions. The main problems were the collection of a large number of documents during the registration of disability, the long wait for the day of examination, the remoteness of the location of the medical and social examination bureau, the lack of specialist doctors, the lack of consideration of the individual needs of the child when conducting individual rehabilitation programs, the need to contact various institutions and departments, the lack of medical and social assistance, violation of rights in the provision of medical services to a child with autism. Conclusion. It is necessary both to expand research aimed at studying etiopathogenetic factors and developing strategies for the prevention and early diagnosis of autistic disorders in childhood, destigmatization, and educational work in society.
{"title":"Problems of medical and social care for children with autism spectrum disorders","authors":"R. Terletskaya, A. V. Lashkova, V. Chernikov, I. Vinyarskaya, L. Kuzenkova","doi":"10.46563/1560-9561-2023-26-3-199-204","DOIUrl":"https://doi.org/10.46563/1560-9561-2023-26-3-199-204","url":null,"abstract":"The aim is to identify, through a sociological survey of legitimate representatives of children with autism spectrum disorders (ASD), the problems that they face in their lives, to further improve the provision of medical and social assistance. \u0000Materials and methods. A survey of legal representatives of ASD minors (aged 1–11 years) was conducted. \u0000Results. The study of the living conditions of a child with autism in the family, the assessment by parents of his state of health, problems arising in the registration of disability, in the provision of medical and rehabilitation assistance and issues of medical and social support made it possible to determine the situation of this group of the child population in modern medical and social conditions. The main problems were the collection of a large number of documents during the registration of disability, the long wait for the day of examination, the remoteness of the location of the medical and social examination bureau, the lack of specialist doctors, the lack of consideration of the individual needs of the child when conducting individual rehabilitation programs, the need to contact various institutions and departments, the lack of medical and social assistance, violation of rights in the provision of medical services to a child with autism. \u0000Conclusion. It is necessary both to expand research aimed at studying etiopathogenetic factors and developing strategies for the prevention and early diagnosis of autistic disorders in childhood, destigmatization, and educational work in society.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89491023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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