The presented review of the special literature data (on MEDLINE and eLIBRARY.RU databases) makes it possible to determine a number of topical issues for preventing child disability as well as trends of scientific research in this area, taking into account the causes of disability and its structure by the underlying disease. The World Health Organization has established a relentless focus on the problem of disability, including that of children, which is reflected in the continuous improvement of methods for assessing and classifying persistent disabilities. It has been shown that the prevention of disability in children and the support of families raising handicapped children and children with disabilities are among the main priorities of the state social policy of the Russian Federation. The data on modern technologies for reducing the genetic burden in the population from the perspective of prevention of hereditary and congenital diseases, including orphan ones, has been presented. The results of studies indicating the increasing role of the intestinal microbiota in the development and prevention of a number of diseases affecting the formation of disability in children have been presented. The problem of combating antibiotic resistance is considered from a preventive perspective. A number of scientific studies is devoted to non-infectious pathology, which is becoming increasingly important in the formation of disability in children of different age groups, starting from the neonatal period. The actual data on the role of obesity in the formation of serious health disorders has been given. The opinion is expressed on the need to create a system of hygienic and medico-psychological safety of children's life in conditions of hyperinformatisation and the modern environmental situation. It is assumed that the implementation of the results of the proposed research into health care practice will make it possible to influence the processes of disability in a child on a deeper pathogenetic level as well as to improve the arrangement of preventive activities in this direction.

Infant mortality is one of the key indicators of demography, characterizing not only the state of health and a social standard of living in a country, region, city, but also an indicator of the level of state development. In recent years there has been a steady downward trend in infant mortality. To the greatest extent, this trend is driven by improved quality of medical care. However, death of children outside healthcare facilities is the least controlled in the structure of infant mortality. The article considers the main causes of deaths of children under the age of one year outside healthcare facilities in the Russian Federation in 2017, presents data of the world and national statistics, analyses possible solutions to the problem.

Non-alcoholic fatty liver disease (NAFLD) is the most commonly diagnosed hepatopathy. There is an increase in the incidence of NAFLD in the structure of liver diseases in children and adolescents, which is directly related to the increasing prevalence of obesity. The spectrum of liver tissue changes in NAFLD ranges from benign hepatocellular steatosis to non-alcoholic steatohepatitis (NASH), fibrosis, cirrhosis of the liver, and hepatocellular carcinoma. With the increasing prevalence of NAFLD in children, we can expect an increase in the incidence of adverse outcomes among people of working age. The key problem for NAFLD is the prediction of disease outcomes. In epidemiological and genetic studies, the relationship between the morphological stage of NAFLD and hereditary factors is shown. Currently, there are three genes associated with NAFLD (PNPLA3, TM6SF2, and GCKR), which, together with the genes responsible for insulin resistance, lipid deposition, inflammation and fibrogenesis in hepatocytes, determine the phenotype of fatty liver disease. The article considers the modern understanding of the issues of genetics, development of liver steatosis and progression of NASH. It is expected that this knowledge can transform our risk stratification strategies in patients with NAFLD and help identify new therapeutic goals.

Due to the recent introduction of golimumab into paediatric rheumatology practice, an overview of the clinical studies of this tumour necrosis factor alpha inhibitor, most of which were conducted with adult patients with rheumatic diseases, has been presented. Clinical laboratory effects and tolerability of golimumab in the form of subcutaneous injections have been analysed for rheumatoid arthritis, psoriatic arthritis, and spondylitis. Evaluation of the efficacy and tolerability of golimumab in long-term observational studies (up to 5 years) has been discussed.

Background. Patients with haematogenous and non-bacterial osteomyelitis have similar clinical symptoms (pain in the nidus area, soft tissue swelling, fever) and laboratory signs (increased erythrocyte sedimentation rate, leukocyte count, C-reactive protein concentration). The criteria for distinguishing these two states are not determined. Objective. Our aim was to determine diagnostic criteria to differentiate haematogenous and non-bacterial osteomyelitis. Methods. The study included data of patients under the age of 18 years with non-bacterial or haematogenous osteomyelitis hospitalised to two clinical centres from 2009 to 2016. The diagnosis was established and re-verified according to archival data (medical history) and after two years of observation (at least once a year). Clinical, anamnestic and laboratory data (haemoglobin, leukocytes, leukocyte formula, platelets, ESR and C-reactive protein, CRP) as well as the results of radiation diagnostics (X-ray, CT scan, MRI or osteosyntigraphy) obtained at the disease onset were taken into account as potential diagnostic criteria. Results. Out of 145 patients with non-bacterial or haematogenous osteomyelitis, the diagnosis was re-verified in 138, of them non-bacterial osteomyelitis — in 91, haematogenous osteomyelitis — in 47. The following criteria had the highest diagnostic value for establishing cases of non-bacterial osteomyelitis: detection of bone destruction foci surrounded by osteosclerosis area [sensitivity (Se) 1.0; specificity (Sp) 0.79]; absence of fever (Se 0.66; Sp 0.92); the number of bone destruction foci > 1 (Se 0.73; Sp 1.0); CRP 55 mg/L (Se 0.94; Sp 0.73); negative results of bacteriological examination of the material from the bone destruction focus (Se 1.0; Sp 0.67). Conclusion. Diagnostic criteria for differentiation of non-bacterial and haematogenous osteomyelitis have been described. Further research on the efficacy of using these criteria to reduce the risk of diagnostic errors, decrease the diagnostic pause, reduce the risk of non-bacterial osteomyelitis complications is needed.

Background. Diagnostic mistakes due to incomplete examination of patients are the leading cause of death. The prevalence of such mistakes and their association with treatment outcomes in our country remain uninvestigated. Objective. Our aim was to study the frequency of recording vital and laboratory parameters and its relationship with death in children admitted to a hospital for emergency medical care. Methods. In our case-control study we analysed the data of medical records of an inpatient (Form 003/u) — patients for intensive care at the age of 0–17 years who were admitted to first-level (n = 13) and second-level (n = 5) hospitals of the Rostov Region (except for Rostov-on-Don) in 2006–2017. We considered the frequency of recording vital (heart rate, respiration rate; blood pressure; oxygen saturation of arterial blood; body temperature) and laboratory (blood count, haemoglobin, hematocrit, total protein, glucose, urea, creatinine, pH, pCO2, pO2, BE, sodium and potassium levels) parameters upon admission to in-patient hospital and when transferred to the intensive care unit (ICU). The association of the frequency of recording these parameters with hospital outcome was assessed using multivariate logistic regression analysis adjusted for the effect of confounders (consultation by a resuscitationist of the resuscitation and consultation centre; the level of healthcare facility; admission time; the presence of infectious diseases and diseases that occurred in the perinatal period; the level of consciousness; the duration of the underlying disease before admission; the method of admission to a healthcare facility). Results. We studied the data of 61 children with a favourable (discharged from healthcare facilities) and 90 children with a fatal outcome in the in-patient hospital (76 — in the ICU). A fatal outcome in the in-patient hospital was associated with records of BE [odds ratio (OR) 3.25; 95% confidence interval (CI) 1.25–8.46)], total protein level (OR 0.19; 95% CI 0.05–0.79), urea (OR 0.24; 95% CI 0.06–0.87) and creatinine (OR 0.23; 95% CI 0.08–0.67) upon admission. A fatal outcome in the ICU was associated with records of systolic (OR 0.36; 95% CI 0.14–0.94) and diastolic (OR 0.30; 95% CI 0.12–0.80) blood pressure, SpO2 (OR 0.38; 95% CI 0.15–0.93) and body temperature (OR 0.32; 95% CI 0.11–0.90) upon admission to the unit. Conclusion. The association of the outcome with recording of vital (blood pressure, SpO2 and body temperature upon admission to the ICU) and laboratory (BE, total protein, urea, creatinine upon admission to a healthcare facility) parameters in children admitted to a hospital for emergency medical care indicates the need to control their clinical and paraclinic examination. A more complete examination of these children may be a reserve for reducing hospital mortality. 

Mucopolysaccharidosis type I (MPS I) is a hereditary metabolic disease that manifests itself in childhood by systemic damage to tissues and organs, a constantly progressive course leading to disability. Diagnosis of mild forms of the disease is particularly difficult due to the absence of specific symptoms. A specific symptom of the mild forms of MPS I (as for other types of MPS) is joint stiffness in children combined with hernia, frequent infections, or valvular defects. Stiffness in MPS I is often interpreted as a manifestation of rheumatological diseases (arthrogriposis, juvenile idiopathic arthritis). The article offers a simple algorithm for diagnosing MPS I, which helps to eliminate the disease using a simple test for determining the activity of an enzyme called alpha-L-iduronidase in a dried blood spot.

Background. Ependymomas are a group of glial tumours, usually occurring in the posterior cranial fossa, less often — in the lateral ventricles and spinal cord. Most often, the recurrence of ependymomas occurs in primary sites, or in the central nervous system (CNS). Ependymoma metastasis beyond the craniospinal system occurs rarely if ever. Description of a Clinical Case. A clinical example of extraneural metastasis to the bones and bone marrow in a 10-year-old patient with supratentorial anaplastic ependymoma after complex therapy has been presented. A review of published cases of the development of extraneural ependymoma metastasis in children has been presented. An attempt was made to consider possible risk factors for their development. Conclusion. Ependymal tumours are capable of extraneural metastasis to the bone and hematopoietic systems. Continued growth and metastasis lead to extremely unfavourable prognosis for the disease.

Background. Juvenile myelomonocytic leukaemia is a malignant disease with clonal impairment of haematopoiesis, characterized by excessive proliferation of monocytic and granulocytic sprout. Currently, the only way to cure it is hematopoietic stem cell transplantation. Vigorous treatment is accompanied by the development of a large number of complications, including nutritional ones. Nutritional support for these patients is fraught with many difficulties due to the treatment characteristics, patient’s condition, and complications of therapy. Description of a Clinical Case. A child diagnosed with juvenile myelomonocytic leukaemia, 1 year and 11 months old, received antineoplastic therapy — chemotherapy and bone marrow transplantation. In the course of treatment and after it, severe complications developed, which required various types of nutritional support, depending on the clinical situation. It is illustrated how important timely nutritional support is and how long and difficult nutritional disorders can proceed in these children even after termination of the main therapy. Conclusion. Preventive nutritional support with infant formulas is advisable for children with oncological diseases prior to treatment even with normal nutritional indicators. With the potential long-term impossibility of adequate alimentation per os, it is advisable to consider the placement of a gastrostomy tube for enteral nutrition since problems with appetite can be very long.