Guidelines are given on terminology, nomenclature and determination of the clinical significance of various variants of the genome nucleotide sequence. Information on the use of specialised databases and literary sources when describing and interpreting molecular genetic research data is provided.

The article is devoted to the 20th anniversary of the establishment of the Research Center for Children’s Health — an institution with a long history, rich in scientific and practical achievements in the field of children’s health. By the time of receiving a new status, the Center was in a difficult material and technical condition that did not allow it to perform its inherent function of the leading pediatric institution of the country. Owing to the institution management together with a highly professional team and the support of the founders, the Center was provided with modern diagnostic equipment in a short time, new units were opened, numerous fundamental and applied research was carried out, new national clinical guidelines were developed for the treatment of childhood diseases, which allowed the Center to reach the international level.

Familial Mediterranean fever is a typical monogenic disease with an autosomal recessive inheritance pattern; caused by mutations in the MEFV gene, which encodes the pyrin protein. It is a relatively rare pathology in the practice of paediatricians and rheumatologists of the Russian Federation. The article provides up-to-date data on the disease prevalence, presents a complete clinical picture of the auto-inflammatory  syndrome, discusses diagnostic criteria and methods for treating patients with familial Mediterranean fever.

Background. Tumour necrosis factor alpha inhibitors are widely used in the treatment  of juvenile idiopathic arthritis (JIA). To achieve maximum efficiency of genetically engineered biologic drugs, it is necessary to study predictors of the response to therapy. Objective. Our aim was to identify early predictors  of the response  to adalimumab therapy in patients with JIA without systemic manifestations. Methods. A prospective cohort study analysed treatment results of patients with JIA without systemic manifestations, who were prescribed adalimumab for the period from August 2008 to August 2014. We studied the relationship between baseline demographic indicators as well as baseline and registered after one month of treatment clinical and laboratory parameters and the best (remission according to the Wallace criteria) response to therapy after one year. Results. In the first year of therapy, 94 (43.9%) of 214 patients achieved remission according to the Wallace criteria. In a multivariate analysis, predictors of achieving remission after one year of adalimumab therapy were the improvement according to the ACR70 criterion after one month of therapy [odds ratio (OR) 3.3; 95% confidence interval (CI) 1.7–6.7], a history of uveitis (OR 1.86; 95% CI 1.03–3.33), a decrease in the number of joints with active arthritis after one month of therapy (OR 1.09; 95% CI 1.02–1.16). During therapy, injection reactions in the form of pain were observed in 36 (16.8%) of 214 patients, infectious diseases of ENT organs — in 85 (39.7%), of the respiratory tract — in 17 (7.9%), and tubinfection — in 13 (6.1%) children. Conclusion. The presence of uveitis, rapid reduction in the number of joints with active arthritis and a high level of response to treatment after one month of adalimumab therapy are predictors for achieving remission during the first year of treatment.

Background. The gastrointestinal polypeptide YY has an inhibitory effect on the colon motility, which can provoke constipation. The role of this peptide in the development of chronic constipation in children remains uninvestigated. Objective.  Our aim was to determine the serum concentration of peptide YY in children with chronic constipation. Methods.  A cross-sectional study included children aged 4–14 years with chronic constipation, who have been observed in the gastroenterology  unit of the paediatric clinical hospital from March 2014  to September  2015.  The control group was formed from healthy children. The diagnosis of chronic constipation  was established based on the Rome criteria (2016).  The blood serum level of peptide YY was determined by enzyme immunoassay after collecting serum samples from all study participants. Results.  The study included 47 patients with chronic constipation (boys 62%; median age — 8 years) and 20 healthy children (boys 50%; median age — 7.5 years, compared  with the main group p = 0.445). It has been found that children with chronic constipation had a lower blood serum concentration of peptide YY than healthy children: the median (25th; 75th percentile) was 0.68 (0.24; 1.43) and 2.34 (1.41; 3.35) ng/ml, respectively (p < 0.001). The level of peptide YY in the group of children with chronic constipation was not related to gender, age; the presence of colonoptosis, colonic/enteric reflux; the duration of chronic constipation, as well as to the occurrence of complications such as encopresis and colitis. Conclusion. Low blood serum levels of peptide YY were detected in children with chronic constipation.

The article discusses the possible relationship between breast milk oligosaccharides, the composition of the intestinal microbiota of an infant and his behaviour shaping. The data of research studies performed  both on the model of laboratory  animals and among children, devoted to the study of the effect of intestinal microbiota on shaping behavioural features and cognitive functions is presented. 

Background. Gout is extremely rare in childhood and is genetically determined in almost all cases. Late initiation of urate-lowering therapy in children with gout increases the risk of severe disability due to the state of the musculoskeletal system and kidney function. Description of a Clinical Case. At the age of 13 years and 9 months, the boy first experienced acute pain, hyperthermia, and restriction of movement in the right elbow joint. Acute haematogenous osteomyelitis was excluded. Further, repeated recurrences of arthritis of the 1st metatarsophalangeal joint of the left foot, distal interphalangeal joints of the 3rd and 5th fingers of the right hand were noted. After 8 months,  a diagnosis  of 'Rheumatoid  arthritis,  polyarticular  type' was established  at his place of residence.  Hyperuricemia (0.99 μmol/L), high serum levels of creatinine (127 μmol/L) and urea (7.2 μmol/L), hypoisostenuria (1,008–1,009)  were detected for the first time. Nephrological examinations were not conducted. He received non-steroidal  anti-inflammatory  drugs and sulfasalazine without effect, with increasing deformity in the affected joints. At the age of 15 years and 7 months, gout was diagnosed with damage to the joints and kidneys, allopurinol therapy was initiated. Normalization of serum uric acid levels was not reached, repeated attacks of gouty arthritis were noted. Direct automated sequencing of the coding sequence of the HPRT1 gene, including exon-intron  regions, revealed a mutation of c.481G>А (p.Aia161Thr)CM088136 NM 000194.1 in the hemizygous state. Genetically determined tophaceous gout,  stage  2–3  chronic  kidney  disease  were  diagnosed.  The  patient  was  administered  the  interleukin-1  inhibitor  canakinumab (single injection), urate-lowering  therapy with a non-purine  inhibitor of xanthine oxidase febuxostat  was prescribed.  As a result, the target serum uric acid level was reached a week later. Over the next 7 months, there were no repeated gouty attacks. Conclusion. Late initiation of treatment for tophaceous gout in the teenage patient caused chronic kidney disease. The successful experience of using a combination of canakinumab and febuxostat in a patient under 18 years old has been described for the first time.

The paediatric patient is considered to be a child. However, when it comes to communication with a patient, his consent, implementation of appointments,  then the party of interaction is supposed to be an adult. In this regard, the paediatric patient is represented  by a child-adult alliance, which allows us to speak of a ‘complex patient’. At the same time, his personal agency (the ability to independently formulate a complaint, accept appointments  and achieve compliance) changes with the age of a child, coming to him from an adult. This determines the efficacy of screening as well as the main tactics of interaction between the doctor and the patient, explanation, and compliance. Based on the theory of periodization of the personality development, answers are given to the questions: who, a child or an adult, formulates a complaint, who accepts the explanation and who is the subject to compliance? It has been shown that in early childhood (up to 3 years) the patient's subjectivity in the formulation of a complaint and a picture of the disease, the perception of prescriptions  and  adherence  to compliance  is provided  by the parent.  During  the pre-school  (3–7  years)  and  primary  school (7–11 years) periods, the picture is mosaic: the doctor compares the opinion of the parent and his child to get a picture of the disease, he gives prescriptions  to the parent and/or to the child, so both of them can be a subject to compliance. And only in adolescence (12–17 years) a child can be almost a completely independent subject in all aspects of interaction in the doctor-patient  system.