The first drug for the treatment of children with achondroplasia

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Central Pontine Myelinolysis in a Child: Clinical Case

Background. Central pontine myelinolysis (CPM) is limited symmetric non-inflammatory demyelination in the middle part of pontine. This disease is based on electrolyte balance disorders. Although CPM was firstly described in adults, but it can also occur in children. Every new case of CPM in children has undeniable interest and high scientific and practical significance due to its low incidence. Clinical case description. The child, 7 years old, had acute development, lethargy, multiple vomiting, subfebrile fever, pains in epigastric region. It has happened after drinking an unknown herb growing in the yard and previously covered with the insecticide "Akarin", according to the mother. The child was hospitalized in the pediatric department at the place of residence. The patient developed strabismus, swallowing disorder, and muscle weakness on infusion therapy. Biochemical blood test has shown hypokalemia and hyponatremia. Head MRI has shown symmetrical focal lesion of heterogeneous structure in pontine. Conclusion. Distinctive feature of this case is the development of CPM in a child on the ongoing therapy of hypokalemia and hyponatremia. The timely provision of qualified medical care has favoured the child's recovery.

Treatment of Cognitive and Behavioral Disorders in Children Using Transcranial Magnetic Stimulation: Literature Review

Speech disorders have the leading position among cognitive disorders and represent the urgent medical problem. The modern approach to the treatment of cognitive and behavioral disorders in children consists of the integrity of pharmacotherapeutic, correctional and psychotherapeutic, as well as non-invasive instrumental methods of brain neurostimulation. This article provides the overview of the currently available data on transcranial magnetic stimulation method as noninvasive treatment of various neuropsychiatric disorders in children and its difference from physiotherapeutic methods used in traditional Russian practice.

Prevalence of Allergy Symptoms in Schoolchildren of Chechen Republic (ISAAC Questionnaire Results)

Background. Rising prevalence of allergic diseases is a major medical and social problem.Objective. The aim of the study is to study the prevalence of allergy symptoms in schoolchildren of Chechen Republic according to the ISAAC (International Study of Asthma and Allergy in Childhood) questionnaire.Methods. We have surveyed 3,398 schoolchildren from 26 randomly chosen schools located in 2 urban and 2 rural areas of Chechen Republic. The first age group (7–8 years old) included 1331 first graders, the second group (13-14 years old) — 2067 eighth graders.Results. The prevalence of allergic diseases symptoms according to the questionnaire was the following: bronchial asthma (BA) — 18.4% (625 children), allergic rhinitis (AR) — 16.6% (565 children), atopic dermatitis (AD) — 4.7% (160 children), while medically verified diagnosis was established in dramatically less cases. Analysis of BA, AR, AD symptoms prevalence has revealed significant correlation between studied parameters and age. Symptoms of BA, AR prevailed in the older age group, AD in the younger one. There were no gender differences identified. Higher prevalence of BA and AR symptoms was recorded in urban residents, while the prevalence of AD in urban and rural areas was quite the same. Moreover, estimation of allergy symptoms prevalence revealed mild course of these diseases in schoolchildren of Chechen Republic.Conclusion. The study, conducted with ISAAC questionnaire, demonstrates high prevalence of allergy symptoms in schoolchildren of Chechen Republic, exceeding the official statistics. It requires particular attention from the healthcare system and improved diagnostic methods for allergies.

Analysis of Employee’s Working Capacity in Children’s City Outpatient’s Clinic №133 of Moscow City Health Department after COVID-19

The issues of long-lasting violations of physical and mental health among employees of Children’s City Outpatient’s Clinic №133 of Moscow City Health Department after COVID-19, as well as they effect on work quality and efficacy, and in some cases loss of any interest to work got us thinking about the features of post-COVID-19 syndrome and and forced us to analyze the prevalence and duration of various symptoms in employees. The protocol for this observational study was approved by the Moscow City Independent Ethics Committee. Developed questionnaires with questions both on the course of COVID-19 and on the postcovid period have fully revealed the picture of psychological, cognitive and asthenovegetative disorders in employees. Healthcare professionals of our clinic were interested in studying this issue as many symptoms of the disease have significantly affected the working capacity of several people. The study involved 68 volunteers. Interesting data and correlations were obtained and they have confirmed the fact of cognitive and memory decline in some employees of Children’s City Outpatient’s Clinic №133 who underwent COVID-19 and the effect of these disorders on working capacity. Study results have shown that 47.5% of doctors and 50% of nurses feel disability of varying degrees after COVID-19. The major task of the head of the facility in such situation is to implement long, comprehensive and effective rehabilitation for employees in order to maintain the capacity of medical workers.

Краткие сообщения

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Enhancement of Preventive Vaccination Approaches for Children with Health Problems: Prospective Cohort Study Results

Background. Modern preventive vaccination is intended to protect and enhance the health of every person considering age and health issues. Vaccination of children with chronic diseases in our country remains extremely topical and arguable problem that associated with many pending issues for doctors of various specialties, including those working as primary care specialists.Objective. The aim of the study is to develop major approaches and to prove scientifically the efficacy and safety of preventive vaccination for children with various chronic diseases.Methods. We have conducted comprehensive study of 100 children aged from 1 month to 17 years 11 months. Children were divided into 4 groups according to the specific disease. Vaccinal and infectious history was analyzed. The post-vaccination period was estimated due to the results of the questionnaire completed by parents. Vaccination immunogenicity was estimated based on the results of the level of specific antibodies to various controlled infections (measles, rubella, parotitis, hepatitis B, pertussis, haemophilus influenza type b).Results. Protective titers of antibodies against haemophilus influenza type b were revealed in 96.2% of all examined patients, tetanus and hepatitis B — in 95.2%, against pertussis — in 92.5%, rubella — in 91%, measles — in 87.5%, parotitis — in 71.9%, chickenpox — in 69% children a month after the completed vaccination. The postvaccinal period was characterized as favorable in most patients. Major changes in overall health status occurred after vaccination in 42% of children was the following: subfebrile fever, capriciousness, or fatigue. Local reactions have developed only in 15% of cases.Conclusion. The results of this study have demonstrated the preventive vaccination efficacy and safety in children with various chronic diseases

Знаменательные и юбилейные даты истории педиатрии России 2022 года

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Hypoplastic Left Heart Syndrome: Diagnostic Difficulties in Prenatal Period

The article discusses the possible diagnostic errors in the hypoplastic left heart syndrome (HLHS) with mitral atresia and intact interventricular septum. “Atrioventricular canal defects” can be commonly and mistakenly diagnosed the prenatal period in such cases. The aspects and possibilities of differential diagnosis of these defects in the prenatal period are discussed. Ultrasound sign is presented in the article, we have named it “hockey stick with puck” that characterizes the retrograde blood flow in the aortic arch. This sign is diagnosed by color Doppler mapping of the sagittal section of the ductus arteriosus and can serve as a marker of mitral/aortic atresia.

Health Technologies Assessment for Orphan Diseases. Example of Social and Economic Burden of Spinal Muscular Atrophy

Background. Studies of the economic impact of disease on society or the social and economic burden, known as developmental disease cost analysis, are equivalent to public health epidemiological studies. Spinal muscular atrophy (SMA) has significant social and economic burden according to various studies.Objective. The aim of the study is to compare Russian and international methodological approaches and results of health technology assessment (HTA) of SMA from the perspective of social and economic burden. Materials and methods. Literature searches were conducted using the Medline, PubMed, ClinicalTrials.gov, and Cochrane Library databases. Keywords and criteria for inclusion and exclusion have been used. The following parameters were used: costs, year of calculation, assessment method, primary and secondary results, type of economic assessment, perspective, time horizon, intervention, analysis of the sensitivity of the results. Both direct medical and non-medical costs were taken into account, as well as indirect costs.Results. The analysis of SMA burden the USA, Germany, Spain, Australia, France, Great Britain, and the Russian Federation was carried out based on 8 international studies and one Russian study that described the costs of SMA. All costs, including indirect ones, were estimated only in 4 international studies and in Russian one. The main source of information was either patient registers or cross-sectional retrospective studies of patients diagnosed with SMA. The costs were higher for type I SMA in all countries. The highest total SMA costs were in the United States, and the lowest in Russian Federation and Spain. Costs excluded new disease-modifying drugs such as nusinersen, risdiplam, and onasemogen abeparvovec in all conducted studies.Conclusions. The social and economic burden of SMA in Russian Federation in 2020 before the introduction of pathogenetic therapy into practice was 2.38 billion RUR/year. The costs of inpatient treatment and rehabilitation were 30.8 and 32.3% of total costs, respectively. These costs, before the introduction of pathogenetic therapy into practice, are lower than in Western Europe and United States, which is most likely since domestic studies used the standards of primary health care for children with SMA implemented in 2012, as well as low indirect costs for SMA in Russian Federation. Unified methodology for assessing the socio-economic significance of orphan diseases is required to carry out HTA of orphan diseases in Russian Federation. It should be based on domestic registries, otherwise on valid data, including those based on data from real clinical practice (RWD /RWE).