Juvenile scleroderma (JS), comprising localized (JLSd) and systemic (JSSc) forms, is a rare autoimmune disorder. This study investigated associations of polymorphisms in extracellular matrix (MMP1, MMP9) and vascular homeostasis (NOS3) genes with JS risk and immunological phenotypes. A case–control study involved 215JS patients (194 JLSd, 21 JSSc) and 72 controls. SNPs (MMP1 rs1799750, MMP9 rs3918242, NOS3 rs1799983) were genotyped using real-time PCR followed by minisequencing and mass spectrometric analysis of reaction products. Associations with disease risk, subtypes, and immunological markers were analyzed statistically. The MMP9 (rs3918242) CT genotype was significantly associated with JLSd (OR = 2.23, 95% CI: 1.14–4.37, p = 0.022), showing a trend in linear facial forms. The NOS3 (rs1799983) GG genotype demonstrated a trend toward association with JSSc (OR = 2.61, 95% CI: 0.92–7.37, p = 0.065). No significant associations were found for rs1799750 MMP1 and risk of disease development. The MMP9 risk genotype did not correlate with scleroderma-specific autoantibodies, while the NOS3 GG genotype was associated with lower serum levels of anti-collagen IV antibodies (p = 0.039). Genetic associations differ for JS subtypes: MMP9 with JLSd and NOS3 with JSSc. Children with CT polymorphism MMP9 (rs3918242) and with NOS3 (rs1799983) GG genotype were found to be genetically predisposed for the development of JS.

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.

The article is devoted to one of the topical problems in paediatrics and child neurology - sleep disorders in children. This problem requires special attention due to its high incidence, clinical polymorphism and complexity of correction. Objective. To evaluate the efficacy of Homeostres preparation for the correction of sleep disorders in children. Patients and methods. A total of 112 patients aged 3 to 5 years 11 months (63% boys and 37% girls) were under observation. All children included in the study were distributed into 2 groups of 56 patients each using the method of simple randomisation. Group 1 patients received Homeostres 2 tablets 3 times a day without meals for 28 days. Patients of group 2 received gamma aminobutyric acid preparation in age-appropriate dose. All patients were observed 2 times: before the start of treatment (Visit 1) and on the 28th day (Visit 2) of the conducted therapy. The effectiveness of therapy was assessed taking into account the characteristics of emotional-behavioural sphere, characteristics of sleep/sleep quality using a special questionnaire, as well as the IMPSS parental assessment scale. Laboratory and instrumental studies included clinical blood analysis to exclude inflammatory process, transcranial dopplerography of cerebral vessels and 3-hour electroencephalographic monitoring of the brain. Results. All examined children initially had different degrees of sleep and sleep disorders within the framework of the diagnosis ‘insomnia’. The positive effect of Homeostres administration on all stages of sleep: initiation and consolidation, especially on the duration and nature of falling asleep, sleep phase and number of night awakenings was verified by statistical analysis. According to the data presented, the number of night awakenings decreased significantly during Homeostres administration: the number of children with 6 and more night awakenings decreased, the number of children with 5 night awakenings decreased by 1.5 times, the number of children falling asleep independently increased by 2 times (p < 0.008) and the number of children rocking to sleep decreased by 1.3 times. Parents reported decreased wakefulness and nighttime wakefulness and 67% of parents of children receiving Homeostres were satisfied with the outcome of the intervention. After 28 days of Homeostres, the duration of nocturnal sleep increased by an average of one hour and ranged from 7 to 12 hours M = 9 9 9 (SD = 1, CV = 13.2%, р = 0.001)), the average duration of nocturnal wakefulness decreased by a factor of 1.1 to 1.5 1.7 1.9 ± 0.5 hours (CV = 37.6%, р = 0.0001), and the duration of the sleep period decreased by a factor of 1.2 to an average of 32 34 36 min (SD = 6, CV = 18.1%). There was also a significant improvement of blood flow in the main great cerebral vessels and improvement of venous outflow in the vein of Galen, which can be partially explained by the presence of sympatho-regulating and vagolytic herbal components in Homeostres. Good tolerability of Homeostres in children and absence of adverse reactions were also noted. Comparative analysis with patients taking gamma aminobutyric acid showed no significant difference in the efficacy of the two drugs. Conclusion. The efficacy of the drug Homeostres for the correction of sleep disorders in children over 3 years of age has been demonstrated on representative material. The use of the drug improves sleep parameters, it has a good efficacy and safety profile, and can be recommended for widespread use in paediatric healthcare.