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SYMPOSIUM “SMALL DOSES IN BIG PEDIATRICS” "大儿科中的小剂量 "研讨会
Pub Date : 2024-05-11 DOI: 10.15690/pf.v21i2.2726
A. Editorial
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引用次数: 0
Case report of the perinatal form of Nieman-Pick disease type С against the backdrop of pathogenetic off-label therapy 以病原学非标签疗法为背景的С型尼曼-皮克病围产期病例报告
Pub Date : 2024-05-11 DOI: 10.15690/pf.v21i2.2746
N. R. Mingacheva, A. Kamalova, N. A. Artykova, R. Rakhmaeva, G. Sageeva
Background. Niemann–Pick disease type C is a multisystem orphan disease caused by mutations in the NPC1 and NPC2 genes and characterized by clinical polymorphism. The difficulties of managing such patients lie in the diagnosis and differential diagnostic search with other conditions with cholestasis, as well as the initiation of substrate-reducing therapy in young children. Case report. Previously, a case report of Niemann–Pick disease type C, with the manifestation of the disease in infancy and the appointment of off-label pathogenetic therapy was described. The article presents the results of dynamic monitoring of the child on this therapy, its effectiveness and safety. The leading syndromes in the clinical presentation of the disease were cholestasis, cytolysis, hepatosplenomegaly, as well as psychomotor retardation. An extensive differential diagnostic search was conducted with the exception of diseases such as toxic, viral hepatitis, alpha-1-antitrypsin deficiency, autoimmune liver diseases, aminoacidopathy, Alagille syndrome. Genetic testing on the “Cholestasis” panel revealed a mutation in the NPC1 gene. Biochemical diagnostics showed an increase in the concentration of lysosphingomyelin-509 and increased activity of chitotriosidase in dry blood spots. When sequencing the NPC1 gene by Sanger, the nucleotide substitution chr18:21131617G> A in the homozygous state was detected in the child. At 9 months, by the decision of the medical board, the child was prescribed pathogenetic therapy, the effectiveness of which was confirmed by clinical and laboratory relief of cholestasis, positive dynamics of neurological manifestations, in addition, the drug is satisfactorily tolerated by the patient, despite the preservation of an isolated increase in the level of aspartate aminotransferase. Conclusion. The presented case report confirms the need for a thorough differential diagnostic search with the inclusion of a wide range of diseases with the leading cholestasis for the timely detection of infants with Niemann- Pick disease type C, as well as the importance and effectiveness of early administration of pathogenetic therapy.
背景。尼曼-皮克病 C 型是一种多系统孤儿病,由 NPC1 和 NPC2 基因突变引起,具有临床多态性。治疗这类患者的难点在于诊断和与其他胆汁淤积症的鉴别诊断,以及在幼儿中开始底物减少疗法。病例报告。在此之前,曾有一例 C 型尼曼-皮克病的病例报告,该病在婴儿期就已显现,并采用了标签外的病原学疗法。文章介绍了对该患儿进行动态监测的结果、该疗法的有效性和安全性。该病临床表现的主要综合征是胆汁淤积、细胞溶解、肝脾肿大以及精神运动发育迟缓。除了中毒性肝炎、病毒性肝炎、α-1-抗胰蛋白酶缺乏症、自身免疫性肝病、氨基酸病、阿拉吉尔综合征等疾病外,还进行了广泛的鉴别诊断搜索。对 "胆汁淤积症 "面板的基因检测显示,NPC1 基因发生了突变。生化诊断显示,溶血磷脂酰肌球蛋白-509 的浓度增加,干血斑中壳三糖苷酶的活性增加。用 Sanger 对 NPC1 基因进行测序时,在患儿体内检测到了 chr18:21131617G> A 的同源核苷酸替换。9 个月时,根据医学委员会的决定,对患儿进行了病理治疗,临床和实验室结果证实,胆汁淤积症得到了缓解,神经系统表现出现了积极的动态变化,此外,尽管天冬氨酸氨基转移酶水平仍有个别升高,但患者对药物的耐受性令人满意。结论本病例报告证实,为了及时发现患有尼曼-皮克病 C 型的婴儿,有必要进行全面的鉴别诊断检查,并纳入多种以胆汁淤积症为主的疾病,同时也证实了早期进行病因治疗的重要性和有效性。
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引用次数: 0
Preventive Efficacy, Safety, Immunogenic Activity, and Evaluation of Post-Vaccination Responses Following Immunization with Combined Trivalent Vaccine Vaktrivir (Measles-Rubella-Parotitis) in Premature Infants 早产儿接种三价联合疫苗 Vaktrivir(麻疹-风疹-腮腺炎)的预防效果、安全性、免疫原性和接种后反应评估
Pub Date : 2024-05-10 DOI: 10.15690/pf.v21i2.2744
Vladislav V. Semerikov, Nina O. Yаkobyuk, L. Sofronova, N. V. Yuminova, Natalia N. Vorobjeva, N. A. Kontarov
Background. Registration of combined trivalent vaccine Vaktrivir (measles-rubella-parotitis) in Russia necessitates studies on its preventive efficacy, safety, immunogenic activity, and post-vaccination responses following the immunization of premature infants. Objective. The aim of the study is to evaluate efficacy, safety, and immunogenic activity of combined trivalent vaccine (measles-rubella-parotitis) and level of post-vaccination responses following the immunization of premature infants. Methods. Experimental studies were conducted to evaluate safety, immunogenicity, and postvaccinal responses after immunization of premature infants with combined within prospective comparative clinical observation. Results. Administration of the combined trivalent vaccine Vaktrivir (measles-rubella-parotitis) in premature infants has shown: no cases of measles, rubella or parotitis among vaccinated persons within prospective clinical observation for 2 years; no disturbances in parameters of clinical blood analysis, biochemical blood count, total IgE, IgA, IgM, IgG (immunogram), or urine analysis among vaccinated children over time; no subjective perceptions, adverse events signs at physical examination among vaccinated compared to baseline parameters; low post-vaccination reactions (6.7%) and similar tolerance of trivalent vaccine Vaktrivir among full-term infants (3.3%) (p = 0.301). Conclusion. Administration of the combined trivalent vaccine Vaktrivir (measles-rubella-parotitis) in premature infants has demonstrated high safety profile and immunogenic properties for measles, rubella and parotitis components, good tolerability, and low post-vaccination responses after immunization, comparable to vaccination of full-term infants.
背景。三价联合疫苗 Vaktrivir(麻疹-风疹-腮腺炎)已在俄罗斯注册,因此有必要对其预防效果、安全性、免疫原活性以及早产儿接种后的反应进行研究。研究目的本研究旨在评估三价联合疫苗(麻疹-风疹-腮腺炎)的有效性、安全性和免疫原性,以及早产儿接种后的反应水平。方法。在前瞻性比较临床观察的基础上,对早产儿接种三价联合疫苗后的安全性、免疫原性和接种后反应进行评估。结果早产儿接种三价联合疫苗 Vaktrivir(麻疹-风疹-腮腺炎)的结果显示在为期 2 年的前瞻性临床观察中,接种者未出现麻疹、风疹或腮腺炎病例;接种儿童的临床血液分析、生化血细胞计数、总 IgE、IgA、IgM、IgG(免疫图)或尿液分析等参数长期未出现紊乱;与基线参数相比,接种者在体检时未出现主观感觉和不良反应体征;接种后反应较低(6.7%),足月婴儿对三价疫苗 Vaktrivir 的耐受性相似(3.3%)(p = 0.301)。结论在早产儿中接种三价联合疫苗Vaktrivir(麻疹-风疹-腮腺炎)显示了麻疹、风疹和腮腺炎成分的高安全性和免疫原性、良好的耐受性和较低的接种后反应,与足月儿的接种效果相当。
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引用次数: 0
Myocarditis in children.Etiology. Pathogenesis. Epidemiology. Clinical presentation 儿童心肌炎。发病机制流行病学临床表现
Pub Date : 2024-02-25 DOI: 10.15690/pf.v21i1.2708
E. Vasichkina, L. A. Balykova, E. Basargina, L. V. Bregel, E. A. Degtyareva, I. Kovalev, N. Kotlukova, I. Leontieva, Lyudmila V. Yakovleva, O. Groznova
Readers will be presented with a series of articles on myocarditis in children, which are based on clinical guidelines developed by a group of authors on this topic. Myocarditis is an inflammatory myocardial disease characterized by a wide range of clinical manifestations — from minor to sudden cardiac death. Given the absence of pathognomonic symptoms, as well as the similarity of manifestations in the onset with common childhood diseases such as respiratory distress, gastrointestinal diseases, infectious pathology, specialists often overlook the likelihood of a diagnosis of “myocarditis”, which causes a late start of therapy and an adverse outcome. Considering that myocarditis accounts for 12% of cases of sudden cardiac death in adolescents and young adults, suspicion of this disease in differential diagnosis in children with nonspecific symptoms and disease progression may be the key to the formation of a proper treatment strategy. Despite significant advances in the study of myocarditis in both adults and children, there are still many unresolved issues. The purpose of this article is to highlight the current view of the etiology, pathogenesis, epidemiology and clinical features in children with various types of myocarditis in order to increase the knowledge of practitioners for better clinical management of patients with myocarditis.
读者将看到一系列关于儿童心肌炎的文章,这些文章是根据一组作者就此主题制定的临床指南撰写的。心肌炎是一种炎症性心肌疾病,临床表现多种多样,从轻微到心脏性猝死不等。由于没有致病性症状,而且发病时的表现与呼吸困难、胃肠道疾病、感染性病理等常见儿童疾病相似,专家们往往忽视了诊断为 "心肌炎 "的可能性,从而导致治疗起步晚和不良后果。考虑到心肌炎占青少年心脏性猝死病例的 12%,因此在对有非特异性症状和疾病进展的儿童进行鉴别诊断时,怀疑这种疾病可能是制定正确治疗策略的关键。尽管对成人和儿童心肌炎的研究取得了重大进展,但仍有许多问题尚未解决。本文旨在强调目前对儿童各种类型心肌炎的病因、发病机制、流行病学和临床特征的看法,以增加从业人员的知识,从而更好地对心肌炎患者进行临床治疗。
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引用次数: 0
ANNIVERSARIES AND MEMORABLE DATES OF THE HISTORY OF PEDIATRICS IN 2024 2024 年儿科史上的周年纪念和值得纪念的日子
Pub Date : 2024-02-25 DOI: 10.15690/pf.v21i1.2714
И. В. Егорышева, Е. В. Шерстнева, А. А. Сточик
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引用次数: 0
RESOLUTION ON THE RESULTS OF THE EXPERT COUNCIL 关于专家理事会成果的决议
Pub Date : 2024-02-25 DOI: 10.15690/pf.v21i1.2657
A. Editorial
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引用次数: 0
Hormone-producing Ovarian Tumors in Children. Literature Review 儿童激素性卵巢肿瘤。文献综述
Pub Date : 2024-02-25 DOI: 10.15690/pf.v21i1.2710
E. Sibirskaya, I. Karachentsova, Angelina A. Sysoeva, M. Chernysheva, Kristina A. Osmanova, Evgenia G. Kotikova
Hormone-producing ovarian tumors in girls are an actual problem in modern gynecology, which is associated with certain difficulties in managing patients. Firstly, it is worth taking into account the higher anatomical mobility of tumors in girls than in adults, due to the high location of the ovaries, weakness of the ligamentous apparatus and the active lifestyle of the child, which causes a higher incidence of torsion of the volumetric mass in children. Secondly, surgical treatment of hormone-producing ovarian tumors leads to a decrease in ovarian reserve and irreversible consequences in the reproductive health of patients in the future, which is an extremely undesirable complication in childhood. Therefore, methods of fertility preservation should be discussed with girls and their parents. It is also important to note that hormone-producing ovarian tumors have a certain degree of malignancy and a tendency to recur. Thus, the relevance of this topic lies in the complexity of management of pediatric patients with this pathology due to the clinical features of the course and a higher probability of complications. Hormone-producing ovarian masses should also include follicular cysts and corpus luteum cysts, but the above structures are excluded from the discussion in this article.
女孩卵巢分泌激素肿瘤是现代妇科中的一个实际问题,给患者的治疗带来了一定的困难。首先,值得注意的是,由于卵巢位置较高、韧带薄弱以及儿童生活方式活泼,女童肿瘤的解剖流动性比成人高,这导致儿童肿瘤体积扭转的发生率较高。其次,对产生激素的卵巢肿瘤进行手术治疗会导致卵巢储备功能下降,对患者今后的生殖健康造成不可逆转的后果,这在儿童时期是极其不可取的并发症。因此,应与女孩及其父母讨论保留生育能力的方法。同样重要的是,产生激素的卵巢肿瘤具有一定的恶性程度和复发倾向。因此,本专题的意义在于,由于病程的临床特点和较高的并发症概率,对患有这种病变的儿科患者的治疗非常复杂。产生激素的卵巢肿块还应包括卵泡囊肿和黄体囊肿,但本文的讨论不包括上述结构。
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引用次数: 0
IX ANNUAL ALL-RUSSIAN CONFERENCE OF STUDENTS AND YOUNG SCIENTISTS "PEDIATRIC READINGS" 第九届全俄大学生和青年科学家 "儿科读物 "年会
Pub Date : 2024-02-25 DOI: 10.15690/pf.v21i1.2717
A. Editorial
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{"title":"IX ANNUAL ALL-RUSSIAN CONFERENCE OF STUDENTS AND YOUNG SCIENTISTS \"PEDIATRIC READINGS\"","authors":"A. Editorial","doi":"10.15690/pf.v21i1.2717","DOIUrl":"https://doi.org/10.15690/pf.v21i1.2717","url":null,"abstract":"<jats:p>.</jats:p>","PeriodicalId":19997,"journal":{"name":"Pediatric pharmacology","volume":"11 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140433327","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
Children with disabilities during the COVID-19 pandemic: medical and social comparative study COVID-19 大流行期间的残疾儿童:医疗和社会比较研究
Pub Date : 2024-02-24 DOI: 10.15690/pf.v21i1.2709
L. S. Namazova-Baranova, E. Vishneva, Elena V. Kaytukova, N. Ustinova, A. Alekseeva, Georgiy A. Karkashadze, I. Belyaeva, Juliya G. Levina, N. Vashakmadze, M. Fedoseenko, Grigorii V. Revunenkov, Aiaz M. Mamedieiarov, Andrej N. Surkov, I. Zelenkova, M. I. Slipka, A. Pashkov, O. Gordeeva, Elena A. Gorbunova, Safarbegim H. Sadilloeva, Kseniya S. Katalkina
Background. The COVID-19 pandemic is a global challenge to States and health systems. The pandemic and its consequences can have a devastating impact on the health and development of children, especially those in vulnerable situations — children with disabilities.The aim of the study is a medical and social assessment of the effect of the COVID—19 pandemic and its consequences on families with children with disabilities.Methods. A descriptive study using the Google forms platform was conducted using the cross-sectional method. Two groups of parents of children aged 0–17 years with disabilities (group 1) and without disabilities (group 2) who apply to a medical organization for preventive examinations were interviewed.Results and discussion. A total of 175 electronic questionnaires were received. Parents from 46 regions of Russia participated in the survey. A significant majority of respondents were women — 172 people (98%), 3 men (2%). More than half of the respondents are residents of the megalopolis. The study showed that the COVID-19 pandemic had a negative impact on the health and education of children and on the lifestyle and families welfare in general. It was revealed that the financial situation of many families who took part in the study worsened, which affected the living conditions of children. During the COVID-19 pandemic, the health care system was being rebuilt taking into account new tasks to counteract dangerous infection, which was reflected in changes in the provision of medical care to children, and in some cases this led to a deterioration of their health. A significant number of parents who participated in the study believe that changes in the organization of medical care during the pandemic had a negative impact on their child’s health. Among the main health problems, parents highlight delays and cancellations of medical consultations, difficulties in obtaining urgent care and problems with drug provision. Among the main health problems, parents highlight delays and cancellations of medical consultations, difficulties in obtaining emergency care and problems with drug provision. The study shows that families with disabled children have been affected by the COVID-19 pandemic to a greater extent than families raising children without chronic health problems. If the deterioration of the financial situation is almost equally revealed in both groups, then problems related to medical care and education have a more noticeable impact on families with a child with a disability. The obtained results should be taken into account in times of new challenges when developing measures of state support for families with children, especially with children with disabilities. At the same time, it is important to pay primary attention to the organization of medical care for children (continuity of planned medical care for the child population and rehabilitation actions) and educational services (providing online learning opportunities for the ch
背景。COVID-19 大流行是对各国和卫生系统的全球性挑战。本研究旨在对 COVID-19 大流行及其后果对残疾儿童家庭的影响进行医学和社会评估。使用谷歌表格平台进行了一项横断面描述性研究。对向医疗机构申请预防性检查的 0-17 岁残疾儿童(第 1 组)和非残疾儿童(第 2 组)的两组家长进行了访谈。共收到 175 份电子问卷。来自俄罗斯 46 个地区的家长参与了调查。绝大多数受访者为女性--172 人(98%),男性 3 人(2%)。半数以上的受访者为大城市居民。研究表明,COVID-19 大流行病对儿童的健康和教育以及生活方式和家庭福利产生了负面影响。调查显示,许多参与调查的家庭经济状况恶化,影响了儿童的生活条件。在 COVID-19 大流行期间,医疗保健系统正在重建,考虑到了抗击危险感染的新任务, 这反映在为儿童提供的医疗保健的变化上,在某些情况下,这导致了儿童健康状况的恶化。许多参与研究的家长认为,大流行病期间医疗组织的变化对其子女的健康产生了负面影响。在主要的健康问题中,家长们强调了就诊的延误和取消、获得紧急治疗的困难以及药物供应方面的问题。在主要的健康问题中,家长们特别强调了就诊延误和取消、难以获得紧急护理以及药物供应问题。研究表明,有残疾儿童的家庭受到 COVID-19 大流行病的影响比抚养无慢性健康问题儿童的家庭更大。如果说两组家庭的经济状况恶化程度几乎相同,那么与医疗和教育相关的问题对有残疾儿童的家庭的影响则更为明显。面对新的挑战,在制定国家对有子女家庭,特别是有残疾子女家庭的支助措施时,应考虑到所取得的结果。与此同时,必须首先关注儿童医疗保健的组织工作(继续按计划为儿童群体提供医疗保健和康复行动)和教育服务(为儿童提供在线学习机会,同时考虑到个人情况)。COVID-19 大流行及其后果对人们的生活水平和质量产生了负面影响,尤其是有儿童的家庭。大流行病对儿童,尤其是残疾儿童的健康和发展产生了严重的不利影响。研究表明,在大流行病期间,家庭的经济状况有所下降,儿童在接受医疗保健方面存在问题,在教育方面,特别是在残疾儿童的专门教学班方面存在困难。根据这项研究,为了防止大流行病的负面影响,建议不仅要向家庭提供经济支持,而且要通过提供必要的设备来维持教育进程,以及为儿童,特别是残疾儿童提供接受医疗护理的可能性,包括有计划的医疗护理。
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引用次数: 0
Evaluation of Post-Vaccination Immunity in Children and Adolescents after Viral Hepatitis B Vaccine 评估儿童和青少年接种病毒性乙型肝炎疫苗后的免疫力
Pub Date : 2024-02-24 DOI: 10.15690/pf.v21i1.2715
Anna A. Khamidulina, Irina L. Solovеva, M. Kostinov, Valentina B. Polishchuk, N. V. Firsova, Atabeg B. Achilov, Tatiana N. Nikitina, Darya A. Isayeva, Darya D. Petrunina, Ksenia M. Korotkova, Yekaterina А. Gerlinger, Naida A. Magomedova
Vaccination against viral hepatitis B is an effective method of protection against this infection. There is multiple decrease in the hepatitis B incidence. However, there was increase in chronic hepatitis B by 42.5%, 15 cases of acute viral hepatitis B in children and 2 deaths from this infection were registered according to the state report “On the sanitary and epidemiological wellbeing of the population of the Russian Federation for 2022”. The criteria for evaluating protection against viral hepatitis B are the anti-HBs level and the duration of post-vaccination immunity.Objective. The aim of the study is to evaluate the duration of postvaccination immunity in temporal aspect in children and adolescents vaccinated against viral hepatitis B.Methods. Prospective open-label study was conducted to assess post-vaccination immunity against viral hepatitis B in 143 children and adolescents. The study of anti-HBs was implemented via the immunoenzyme test system “Vectohep B-HBs-antigen”. Microsoft Office Excel 2010 package and the Prism9 program (GraphPad, USA) were used for statistical analysis.Results. It has been shown that hepatitis B vaccine provides 100% seroconversion. However, decrease in anti-HBs levels was revealed already 6 months after vaccination in 15.07% of cases of seronegative individuals, after 1 year their number has increased up to 28.77% of cases. On average, every fourth person had low protective level of anti-HBs. Almost two-thirds of adolescents became seronegative by the age of 14.Conclusion. Vaccination against viral hepatitis B ensures the maximum production of anti-HBs 1 month after the completed vaccination in 100% of cases. Antibody level begins to decrease 6 months after the third completed vaccination against hepatitis B, and in 14 years, 72.74% of those immunized become seronegative. All of these dictates the need to consider a booster dose in adolescents at the age of 14 years.
接种乙型病毒性肝炎疫苗是预防这种感染的有效方法。乙型肝炎的发病率有多方面的下降。然而,慢性乙型肝炎的发病率却增加了 42.5%,根据《2022 年俄罗斯联邦居民卫生和流行病学健康状况》国家报告,登记在册的儿童急性乙型病毒性肝炎病例有 15 例,因乙型肝炎感染死亡的病例有 2 例。 评估预防乙型病毒性肝炎的标准是抗乙肝病毒水平和接种疫苗后的免疫持续时间。本研究旨在从时间方面评估接种乙型病毒性肝炎疫苗后儿童和青少年免疫力的持续时间。这项前瞻性开放标签研究评估了 143 名儿童和青少年接种乙型病毒性肝炎疫苗后的免疫力。通过免疫酶测试系统 "Vectohep B-HBs-抗原 "对抗-HBs进行研究。统计分析使用了 Microsoft Office Excel 2010 软件包和 Prism9 程序(GraphPad,美国)。结果表明,乙肝疫苗可提供 100% 的血清转换率。然而,15.07% 的血清阴性者在接种疫苗 6 个月后发现抗乙肝病毒水平下降,1 年后,这一比例上升到 28.77%。平均每四个人中就有一个人的抗-HBs保护水平较低。近三分之二的青少年在 14 岁时血清阴性。接种乙型病毒性肝炎疫苗可确保 100%的病例在完成接种 1 个月后产生最高水平的抗-HBs。在完成第三次乙型肝炎疫苗接种 6 个月后,抗体水平开始下降,14 岁时,72.74% 的免疫接种者血清阴性。所有这些都表明,有必要考虑在青少年 14 岁时加强乙肝疫苗接种。
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引用次数: 0
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Pediatric pharmacology
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