The revealed identity of problems in different regions of the country allows to consider a common strategy to overcome them, which, obviously, should primarily involve education of medical personnel, restructuring of hospital beds to increase day care beds, increasing the clinical expert work in hospitals.

Aim: to assess clinical and genetic, microbiological and functional characteristics of patients with cystic fibrosis living in Moscow and Moscow region as of January 31, 2010. Patients and methods: 359 patients were examined. Mean age was 12,1 ± 9,6 years old (0,2-43,2), median age-11,0 (16,0) years. Adult rate (patients older than 18 years old) was 30,6%. Median age at the moment of diagnosis confirmation was 1,0 (5,0) years; 3,8% of all patients (12,4% of adults) were diagnosed in adulthood. Genetic screening for the purpose of cystic fibrosis mutations detection and microbiological assay of lower respiratory tract discharge were performed. Results: the prevalence of the most common mutation in the world-F508del-was 52,96%, a relatively high frequency of «mild» genotypes was observed among adult patients. Interestingly, a high percentage of Burkholderia cepacia complex (8,7%) in the structure of microbiological pattern of the respiratory tract was noted. A significant increase of pneumothorax, haemoptysis, hypoxemic respiratory failure and diabetes mellitus with fasting hyperglycemia frequency was established, while hepatocirrhosis with portal hypertension prevalence was comparable between adults and patients. Conclusions: patients with cystic fibrosis from Moscow and Moscow region have a number of clinical and genetic and microbiological special features in comparison to patients from other regions of Russian Federation and certain western countries.

Background: Phenylketonuria (PKU)-the most common inherited disorder of amino acid metabolism, identified in Russia by neonatal screening. The results of dietary treatment demonstrate a positive effect. However, the quality of PKU patients life remains unknown. Objective: The aim of the study was to assess the quality of PKU children life in comparison with their healthy peers, also depending on the treatment onset and the patient's age. Methods: The study involved 64 pairs-PKU child and one of his parents. It was used the common questionnaire survey Pediatric Quality of Life Inventory (PedsQLtm4.0, Varni et al., USA, 2001) and the program SPSS v. 14.0 (US) for statistical processing of the results. Results: The statistically significant (p <0.001) differences between PKU patients and healthy children in the physical, emotional, social and role functioning were found. The most pronounced differences were observed in the social (70 points vs 90 respectively) and role (57.5 vs 80 respectively) functioning. Maximum significant correlation (p <0.001) was installed between the social functioning of PKU patients and timing of the dietary treatment. Also the statistically significant interaction (p <0.05) was found between the role functioning, patient's age and treatment onset. The assessment points of social and role functioning were higher (p <0.05) in the PKU patients subgroup with early treatment initiation. Conclusion: These results confirmed the need of early diagnostics of PKU and initiation of dietary treatment, as well as the organization of timely psychological support for parents of sick children.

The health related quality of life (HRQL) is the assessment correlating with life expectancy, changing due to violations of the current functional state, self perception and social opportunities that are affected by illnesses, traumas, treatment or personal beliefs. The article presents the results of the adaptation and validation of the questionnaire used to assess the utility HUI index of health in children older than 5 years old. The obtained data allowed to make the conclusion that the Russian version of the HUI questionnaire can be used in scientific and clinical-economic researches for assessing life quality in pediatric practice.

Both groups of children underwent a rapid step test, which has immediately confirmed the diagnosis, while the results of the microbiological culture came after 2-3 days.It is noteworthy to mention that all children of the sample, have been treated in my paediatric practice. Conclusion The comparative study confirmed that the rapid strep test is accurate in 97% of the examined cases. Namely, the parallel analyses consisting of rapid strep test and microbiological swabs in 269 children out of 380, have shown identical results.Therefore, a rapid strep test is ought to be done by every doctor, in order to come up with a prompt diagnosis and therapy, prevent diseases, as well as promoting rational use of antibiotics.