[Sjögren's syndrome with juvenile onset].

Aim to analyze demographic data, clinical features and results of laboratory and instrumental examinations in children with primary and secondary Sjögren syndrome (SS). MATERIALS AND METHODS: The study included all consequently patients, who hospitalized to the pediatric department of V.A. Nasonova Scientific and Research Institute of Rheumatology from January 2013 to December 2018, which verified the diagnosis of the SS. RESULTS: The diagnosis of SS was established in 30 patients, among whom there were only 5 (16.7%) boys, the ratio of boys and girls was 1:5. According to the results of the examination, the following diagnoses were verified: 4 - primary SS, 9 - systemic lupus erythematosus with SS, 10 - juvenile rheumatoid arthritis with SS, 3 - mixed connective tissue disease, 3 - overlap syndrome, 1 - systemic sclerosis with SS. The median age of rheumatic disease onset was 10.4 (7.0; 13.75) years. The median of disease duration at the time of SS verification - 3.0 (0.85; 4.4) years. Recurrent parotitis were observed in 8 patients. 24 pts had isolated involvement of salivary glands, 6 - combined with lacrimal glands. Sicca syndrome was occurred in 8 patients. All patients had systemic manifestations: constitutional abnormalities - 50%, polyarthritis - 83.3%, lymphadenopathy - 73.3%, cutaneous involvement - 60%, pulmonary involvement - 23.3%. Of the hematological disorders, leuko/lymphopenia was more often recorded - in 30%, polyclonal hypergammaglobulinemia - in 26.7% of patients. ANA were detected in all cases, anti-Ro antibodies - 60%, a positive rheumatoid factor - 56.7% of patients. The most common combination of immunological disorders was the presence of ANA, RF and anti-Ro antibodies (40% of patients). The treatment for each patient was justified by the main manifestations and activity of rheumatic disease: 66.7% received nonsteroidal anti - inflammatory drugs, 80% - glucocorticoids, 46.7% - methotrexate, 20% - azathioprine, 43.3% - hydroxychloroquine, 10% - mycophenolatis mofetilum, 3.4% - cyclophosphamide. 66.7% of patients received the treatment of Biologics. CONCLUSIONS: Early diagnosis of SS in children with rheumatic diseases significantly affects to the choice of treatment and prognosis. In children the SS has no clinical manifestations for a long time. Such symptoms as a hypergammaglobulinemia, positive RF without persistant arthritis, nonspecific skin lesions, recurrent parotid swelling may help to diagnosis of SS.

[Spondyloarthritis: modern terminology and definitions].

Aim to identify outdated terms and make changes to the terminology of spondyloarthritis. MATERIALS AND METHODS: At the first stage of the work, the terms divided into two categories: "outdated" definitions and terms that need to be improved or unified. Subsequently, each member of the Expert Group of Spondyloarthritis at the Association of Rheumatologists of Russia (ExSpA) presented by its own definition of the designated term or agreed with the previous term. At the next stage, the existing definitions were put together. After discussion, experts left a term that scored at least 2/3 of the votes. The special opinion of experts was recorded, whose did not coincide with the majority opinion. An open vote was conducted, when defining an "outdated" term with the unanimous decision of all group members, this term was not recommended for further clinical use. RESULTS: The work carried out allowed us to identify a number of terms that are not recommended for use in clinical practice. Number of terms are defined, which should be used when discussing the problem of spondyloarthritis. CONCLUSION: The Expert Group of Spondyloarthritis at the Association of Rheumatologists of Russia suggests using or, accordingly, not using a number of terms and their definitions in clinical practice.

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.

OBJECTIVE: To evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry, with a focus on genotype-phenotype correlations and predictive disease severity markers. METHODS: A web-based registry retrospectively collected data on patients with CAPS. Experts in the disease independently validated all cases. Patients carrying NLRP3 variants and germline-mutation-negative patients were included. RESULTS: 136 patients were analysed. The median age at disease onset was 9 months, and the median duration of follow-up was 15 years. Skin rash, musculoskeletal involvement and fever were the most prevalent features. Neurological involvement (including severe complications) was noted in 40% and 12% of the patients, respectively, with ophthalmological involvement in 71%, and neurosensory hearing loss in 42%. 133 patients carried a heterozygous, germline mutation, and 3 patients were mutation-negative (despite complete NLRP3 gene screening). Thirty-one different NLRP3 mutations were recorded; 7 accounted for 78% of the patients, whereas 24 rare variants were found in 27 cases. The latter were significantly associated with early disease onset, neurological complications (including severe complications) and severe musculoskeletal involvement. The T348M variant was associated with early disease onset, chronic course and hearing loss. Neurological involvement was less strongly associated with V198M, E311 K and A439 V alleles. Early onset was predictive of severe neurological complications and hearing loss. CONCLUSIONS: Patients carrying rare NLRP3 variants are at risk of severe CAPS; onset before the age of 6 months is associated with more severe neurological involvement and hearing loss. These findings may have an impact on treatment decisions.

[Asthenic disorders and cognitive dysfunction in patients with tension headache].

The article is devoted to the study of cognitive dysfunction in patients suffering from tension headaches. Patients had attention and memory dysfunction, higher levels of anxiety, asthenia and subclinical symptoms of depression. The high efficacy of cerebrolysin in the restoration of cognitive dysfunction confirmed by the data of clinical, psychological and neuropsychological studies was shown.

[Power spectra of the main EEG rhythms in children with different types of attention deficit hyperactivity disorder].

We investigated a group of children aged 9-12 years with attention deficit hyperactivity disorder (ADHD) combined type, have divided into two variants of the clinical picture of ADHD: residual-organic variant (ADH D RO) and idiopathic variant (ADHD RI). We studied the power spectral analysis in the main frequency bands in background EEG eyes closed and are open. The significant differences between both groups observed in the theta frequency band in the fronto-central and occipital leads. In the fronto-central leads of the cortex were the maximum values in the group of children ADHD RO, whereas in children with ADHD IR, the largest values of power spectra were in the occipital leads. Statistically significant differences in spectral power in the alpha range between healthy subjects and groups children with ADHD had not been received. Thus, our studies have shown that these two variants of ADHD have some neurophysiological differences that must be considered when choosing a treatment.

[Undifferentiated spondyloarthropathies].

The article is a review of the various aspects of the undifferentiated spondyloarthropathies. Data on the prevalence denote considerable frequency of undifferentiated spondyloarthropathies in various age groups. Clinical symptoms, evolution and treatment are provided. The special attention is given to a problem of juvenile spondyloarthropathies. Changes of the nomenclature of the spondyloarthropathies are offered, allowing to improve diagnostics and treatment of these diseases.

[State-of-the-art pharmacotherapy of juvenile arthritis].

The review of state-of-the-art stage of pharmacotherapy of juvenile arthritis is represented. Main principles and features of the use of antirheumatic remedies in children are given with the accent to age limitations. Detailed characteristic used drugs and treatment schemes and also recommendations for prevention and monitoring of collateral reactions are given. Special attention is devoted to differential approach to the therapy of juvenile arthritis various variants: systemic, polyarticular and oligoarticular. Schematic algorithms of therapeutical tactics are represented.

PRINTO/PRES international website for families of children with rheumatic diseases: www.pediatric-rheumatology.printo.it.

OBJECTIVE: To prepare a website for families and health professionals containing up to date information about paediatric rheumatic diseases (PRD). METHODS: Firstly, paediatric rheumatology centres and family self help associations were surveyed to characterise current clinical practice of physicians providing care for children with PRD, research activities, and training facilities of each centre. Secondly, international consensus was reached on the content of the website. Finally, the website was developed and the texts translated. RESULTS: The web page contains three main sections: (a) description for families of the characteristics of 15 PRD; (b) list of paediatric rheumatology centres; (c) contact information for family self help associations. A version for 45 countries in 52 languages (with another three in progress) is now available on the web. 291 surveys from 171 centres and 102 family associations were received from 42 countries. The median proportion of time spent in paediatric practice in the centres examined was 100%, with 70% of this time dedicated to paediatric rheumatology. 90% of the centres were willing to perform clinical trials in the future. CONCLUSIONS: The PRINTO/PRES website provides a well defined and competent set of information about PRD, with appropriate multiple translated versions and easy web navigational direction.

The Russian version of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ).

We report herein the results of the cross-cultural adaptation and validation into the Russian language of the parent's version of two health related quality of life instruments. The Childhood Health Assessment Questionnaire (CHAQ) is a disease specific health instrument that measures functional ability in daily living activities in children with juvenile idiopathic arthritis (JIA). The Child Health Questionnaire (CHQ) is a generic health instrument designed to capture the physical and psychosocial well-being of children independently from the underlying disease. The Russian CHAQ CHQ were fully validated with 3 forward and 3 backward translations. A total of 146 subjects were enrolled: 86 patients with JIA (23% systemic onset, 39% polyarticular onset, 15% extended oligoarticular subtype, and 23% persistent oligoarticular subtype) and 60 healthy children. The CHAQ clinically discriminated between healthy subjects and JIA patients, with the systemic, polyarticular and extended oligoarticular subtypes having a higher degree of disability, pain, and a lower overall well-being when compared to their healthy peers. Also the CHQ clinically discriminated between healthy subjects and JIA patients, with the systemic onset, polyarticular onset and extended oligoarticular subtypes having a lower physical and psychosocial well-being when compared to their healthy peers. In conclusion the Russian version of the CHAQ-CHQ is a reliable, and valid tool for the functional, physical and psychosocial assessment of children with JIA.

[The current clinical and diagnostic aspects of juvenile ankylosing spondylarthritis]. / Sovremennye aspekty kliniki i diagnostiki iuvenil'nogo ankiloziruiushchego spondiloartrita.

The examination was performed of 700 children with juvenile arthritis diverse in nosology. Juvenile ankylosing spondylarthritis (JSA) was diagnosed in 60 patients. In 31 of them the diagnosis was accurate, 29 patients were suspected of having JSA by Garmisch-Partenkirchen criteria. 95% of the examinees were newly diagnosed. The study demonstrated polymorphism of clinical symptoms, variability of JSA course, articular syndrome characteristics, those of extraarticular manifestations, and the axial lesion.