Introduction. In 2006, the American Heart Association identified two main groups of cardiomyopathies (CM) as primary and secondary, referring to the primary CM heart diseases of genetic, acquired or mixed etiology, and to the secondary — pathological involvement of the myocardium as a part of a systemic pathology.

Aim: to determine the most common phenocopies of hypertrophic CM (HCM) in children, due to the accumulation of pathological substances in the myocardium and present their differences.

Materials and methods. Instrumental diagnostic methods (echocardiography, electrocardiography, 24-hour Holter ECG monitoring), laboratory tests (N-terminal propeptide of natriuretic hormone, creatine phosphokinase, creatine phosphokinase-MB, lactate dehydrogenase, aspartate aminotransferase, alanine aminotransferase, lactate, ammonia), and molecular genetic tests were used. 

Results. Nucleotide variants in non-sarcomeric genes causing myocardial hypertrophy were identified in one hundred four (39%) patients: infiltrative diseases with heart damage were diagnosed in 46 cases, syndromes from the RAS-pathy group were diagnosed in 58 cases. Patients with storage diseases included 12 children with Pompe disease, 2 cases with PRKAG2 syndrome, 11 cases had Danon disease, 15 — Corey–Forbes disease, and 6 — Friedreich ataxia. Adverse events were reported in group of patients with Pompe disease (9 deaths), and with Danon’s disease (2 deaths). 

Conclusion. The phenocopy varieties of HCM in children are represented by a wide variety of genetic variants and often by diseases from the group of glycogen metabolism disorders, fatty acid oxidation disorders, and mitochondrial diseases. Identification of the genetic causes of ventricular myocardial hypertrophy in children is the key to early diagnosis of rare diseases, timely and adequate treatment, as well as predicting the course and outcome of the disease.

Contribution:
Gandaeva L.A., Basargina E.N. — concept and design of the study;
Gandaeva L.A. — collection and processing of material, text writing;
Basargina E.N. — text editing;
Gandaeva L.A., Basargina E.N. — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 24, 2023
Accepted: May 16, 2023
Published: June 27, 2023

Introduction. Despite the genetic counseling, families with cystic fibrosis (CF) patients and modern possibilities of prenatal molecular genetic screening, the occurrence of CF in more than one child in a family is not rare. The same genotype is expected to determine the specific phenotype in CF patients, especially in siblings. However, broad clinical heterogeneity could indicate the influence of secondary genetic factors on the course of the disease.

The aim of the study is to examine the genotype-phenotype correlation and disease course features in CF siblings, including twins.

Materials and methods. A clinical retrospective cohort observational study included fifty three sibs (23 boys, 30 girls) aged from 6 months to 17 years 9 months (median age of 8.3 (4.8–12.9) years, age difference 5 ± 2 years) with a diagnosis of CF confirmed by molecular genetic methods. Group 1 consisted of  9 twin pairs (3 — monozygotic, 6 — dizygotic), group 2 — 35 complete sibs.

Results. The mean age of diagnosis for older sibs is 2.5 years (8 months — 9,8 years; min — 1 months, max — 17 years) and for younger sibs — 8.5 months (1.3 months–3 years). Chronologically, the onset of CF was registered earlier in younger sibs than in older sibs in 3 (16.7%). In 6 (22.2%) of families, the pancreatic status of sibs varied from normal function to severe pancreatic insufficiency, with the occurrence of pancreatitis observed in only 4 (7.6%) patients. In 21 (77.8%) families with sibs infected by P.aeruginosa, 5 (23.8%) had a simultaneous primary culture of the pathogen, 8 (38,1%) had culture in both children but with an interval from 1 month to 9.5 years (Ме: 3.2 (5 months–4.9 years), and in 8 (38.1%) had culture in only 1 sibling. All younger sibs had the primary contamination at an earlier age with a 5.3 year (2–6.6 years;) difference. In 10 (37.0%) of the families, the pulmonary function of the sibs was variable. The number of bronchopulmonary exacerbations per year ranged in 8 (29.6%) of sib pairs and averaged 1.3 ± 0.5 in older sibs, 1.1 ± 0.3 in younger sibs, and 1.7 ± 1.3 in twins. The severity of hepatic involvement varied in 9 (33.3%) of sib pairs: no morbidity in 6 (33.3%), cystic fibrosis-associated fibrosis in 7 (38.9%), and cirrhosis with portal hypertension in 5 (27.8%).

Conclusion. CF siblings, despite the same genotype, similar environmental conditions, and high risk of cross-infection, are characterized by wide phenotypic heterogeneity. Aside from the pathogenic CFTR variants, there are other genetic (modifier genes) and epigenetic (microRNA, DNA methylation) factors that could contribute to the clinical features of cystic fibrosis.

Contribution.
Krasnovidova A.E., Simonova О.I., Chernevich V.P. — research concept and design of the study;
Krasnovidova A.E., Pakhomov A.V., Reykh А.P. — сollecting and processing of the material;
Krasnovidova A.E. — statistical processing;
Krasnovidova A.E. Pushkov А.А. — text writing;
Krasnovidova A.E., Pushkov А.А., Simonova О.I. — editing.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgement. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 18, 2023
Accepted: May 16, 2023
Published: June 27, 2023

Introduction. The results of treatment of children who are preparing or have already undergone major surgery depend on many factors, including the nutritional status — the presence/absence of malnutrition.

Aim: to assess the nutritional risk and nutritional status in children with surgical diseases during pre- and postoperative periods.

Materials and methods. A prospective, single-center, non-comparative study included 60 children aged from 1 month to 17.5 years with diseases of the esophagus, intestines, urogenital system, admitted for surgical treatment. In all patients, the anamnestic data of life and disease were analyzed, screening of nutritional risk was assessed according to the validated Russian version of the STRONG-kids screening tool, nutritional status was evaluated using the WHO AnthroPlus program (2009) and the anthropometric indices (Z-scores: weight/age, height/age, BMI/age), the biochemical parameters (concentrations of C-reactive protein, total protein, albumin, prealbumin, transferrin) were estimated.

Results. A high nutritional risk at admission was established in more than half (57%) of patients, moderate — in 36% of patients, low — only in 7% of cases. Malnutrition (Z-score BMI/age from –1 to –3) was diagnosed in 24 (40%) patients, 58% of them suffered from diseases of the esophagus, 37% had pathology of the intestine and 36% — the genitourinary system.

Conclusion. Nutritional risk screening and nutrition status assessment are necessary in all patients admitted to pediatric surgical hospitals for the timely appointment of adequate nutritional support, which will reduce the incidence of postoperative complications and decreasing the length of hospital stay.

Contribution:
Borovik Т.Е., Yatsyk S.P., Alkhasov A.B. — research concept and design of the study;
Fomina М.V., Gusev А.А., Guseva I.M. — collection and processing of material;
Sokolov I., Bushueva T.V. — statistical processing;
Borovik Т.Е., Yatsyk S.P., Zvonkova N.G. — text writing;
Fisenko A.P., Zvonkova N.G., Bushueva T.V. — editing. 
All co-authors — approval of the final version of the article, responsibility for the integrity of all part of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 11, 2023
Accepted: May 16, 2023
Published: June 27, 2023

Introduction. The use of non-invasive methods for examining patients with endoscopic remission can be useful in identifying the need for endoscopic interventions and assessing disease activity over time.

Materials and methods. We analyzed two hundred thirty two medical histories of children with Crohn’s disease (CD) who were examined and treated at the National Medical Research Center for Children’s Health. The relationship between the CD simple endoscopic score (SES-CD) and the newly developed mucosal inflammation noninvasive index (MINI) was determined. Similarly, data from 80 children with ulcerative colitis were examined to identify correlations between the ulcerative colitis endoscopic index of severity (UCEIS) and MINI.

Results. Among all forms of Crohn’s disease, a direct strong correlation was found between MINI and SES-CD (R = 0.81, p < 0.001). A MINI value > 5 indicated the absence of mucosal healing (SES-CD  > 2 points) with a sensitivity of 73% and a specificity of 84%, and a MINI value ≥13 predicted high activity of Crohn’s disease (SES-CD ≥ 16 points) with sensitivity and specificity of 79% and 88%, respectively. The correlation between MINI and UCEIS in patients with ulcerative colitis revealed an average relationship, which requires further modification of the index in accordance with the characteristics of the course of the disease.

Conclusion. The newly developed MINI is a simple and intuitive tool for assessing mucosal inflammation in CD children.

Contribution:
Potapov A.S., Prokhorenkova M.O., Lokhmatov M.M., Fisenko A.P. — research concept and design of the study;
Prokhorenkova M.O., Korolev G.A., Nosenko K.M., Vinokurova A.V. — collection and processing of material;
Prokhorenkova M.O. — statistical processing;
Prokhorenkova M.O., Vinokurova A.V. — text writing;
Potapov A.S., Lokhmatov M.M. — editing.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgement. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 14, 2023
Accepted: May 16, 2023
Published: June 27, 2023

Background. Vulvar lichen sclerosus (VLS) is a chronic inflammatory dermatosis, which is characterized by focal skin atrophy of the vulva and mucous membranes. It leads to deformation of the perineum. The prevalence of VLS in children is up to 0.1%, among the adults — 3%. The average age of the first symptoms appearance in girls is 5.4 years, in women — 55.1 years. The diagnosis of VLS is made on the base of anamnesis, assessment of pubertal development, physical examination of the external genitalia, advanced vulvoscopy and vaginoscopy, bacteriological, bacterioscopic and cytological studies of vaginal wet mount, assessment of the hormonal profile. The treatment methods include high-potency steroids as the initial treatment, usage of diode, fractional CO2 and erbium lasers with different wavelengths and injections of platelet-rich plasma to improve the regeneration processes of the affected tissue by improving collagenogenesis, vasculogenesis, production of proteoglycans and glycoproteins.

The aim of the study is to compare the effectiveness of photodestruction with a manual diode laser of the Dornier Medilas D LiteBeam, wavelength of 940 nm, minimum power in pulsed mode on the girls’ vulva mucosa with various types of VLS during neutral and preadolescent age. To obtain the results there were analyzed criteria including the size of the lesion after photodestruction therapy, the disappearance of cracks and angiomatosis in the LS area. The objectives of the complex therapy of VLS in girls were elimination of itching, decrease of the inflammatory changes, improvement of the skin and mucosa blood supply, and stimulation of local immunological mechanisms.

Materials and methods. The study was conducted on the base of the gynecological department of Russian Children’s Clinical Hospital. The effectiveness of the laser-induced thermotherapy with a wavelength of 940 nm, minimum power in pulsed mode on the vulva of VLS girls of neutral and preadolescent periods as a part of the complex therapy was evaluated. Ninety 5 to 13 year VLS patients took part in the trial. They were divided into 3 groups. The first group included 30 patients (average age 7.5 ± 1.1) with atrophic form of lichen treated with a laser with a wavelength of 940 nm. The second group consisted of 30 patients (average age 6.8 ± 1.3) with erythematous-edematous lichen, who were treated with a laser with a wavelength of 635 nm. The third group included 30 patients (average age 7.3 ± 1.2) with erosive and ulcerative form of VLS, who received high-potency corticosteroids therapy. 

Results. The treatment results in the three subgroups of VLS patients show a diode laser with a wavelength of 940 nm therapy to be the most effective. After the first treatment course 27 (90%) patients in the first group showed a positive trend with a decrease in itching and burning, pink-color presence in vulva mucousа, a decrease of the skin pigmentation area and an increase in the elasticity of the skin. After 2 courses, 29 (96.7%) patients had positive trend. The second most effective method of treatment is photodestruction with a 635 nm wavelength laser. After the 4 courses (two hospitalisations), 25 (83,3%) patients noted a decrease in itching and in a “tightening” feeling. In 24 (80%) patients there was an improvement in the condition of the mucous membranes of the vulva. Reduction of edema was observed in 23 (76.7%) patients by the time of an examination in 3 weeks after the last therapy course. However, it was not possible to completely restore the mucous membranes of the vulva in patients of this group. The least effective — drug therapy with high-potency steroids. 8 (26.7%) patients noted positive dynamics only by the 4th day therapy, 11 (36,7%) by the time of the 3 weeks after the initial application of the ointment, 12 (40%) by the 2nd month. In 5 (16.7%) patients, the visible condition of the mucous membranes did not change, the number of bleeding ulcers decreased minimally.

Conclusions. The results of the trial indicate the high efficiency of laser therapy of VLS in children compared with the topical glucocorticoids treatment. The duration of the therapy and condition of the external genitalia after treatment depends on the histological form and stage of VLS. According to our study, laser therapy contributes to the remission onset in pediatric patients with different types of VLS in the shortest possible time after the photodestruction procedure.

Contribution:
Sibirskaya E.V., Sharkov S.M. — research concept and design of the study;
Melenchuk I.A., Kirillova Yu.A., Karachencova I.V. — collection and processing of material;
Ivanovskaya T.N., Annakulieva A.S., Pivazyan L.G. — statistical processing;
Melenchuk I.A., Nakhapetyan E.D. — text writing;
Sibirskaya E.V., Melenchuk I.A Nakhapetyan E.D. — editing.
All co-authors — approval of the final version of the article, responsibility for the integrity of all part of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 07, 2023
Accepted: May 16, 2023
Published: June 27, 2023

Introduction. In pediatrics, the study of pain has also become a highly relevant task, which is intensively studied in the framework of pediatric surgery, oncology, anesthesiology, neurology, cardiology, gastroenterology, rheumatology, not counting palliative medi­cine, age-related physiology.

Materials and methods. The study was conducted during the postoperative period in thirty four patients after urological surgery. For an objective assessment of the effectiveness of anesthesia, the following research methods were used: a clinical study with the determination of the intensity of pain on a visual analogue scale (VAS) and the determination of blood pressure, pulse oximetry, and echocardiographic study of central hemodynamic parameters.

Results. Studies of the clinical picture over the course of the postoperative period with monitoring of blood pressure, oxygen saturation, pulse oximetry, studies of the subjective assessment of pain intensity according to VAS, and an echocardiographic method for studying central hemodynamic parameters showed the relative stability of patients after adequate pain relief.

Conclusions. Multimodal epidural analgesia based on bupivacaine at a dose of 1.0 mg/kg reduces early postoperative complications, promotes rapid rehabilitation and recovery.

Contribution:
Satvaldieva E.A., Fayziev O.Ya. — concept and design of the study;
Fayziev O.Ya. — collection and processing of material;
Yusupov A.S. — statistical processing of the material;
Fayziev O.Ya., Agzamova Sh.A. — writing text;
Satvaldieva E.A., Faiziev Ya.N., Agzamova Sh.A. — editing.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 28, 2023
Accepted: May 16, 2023
Published: June 27, 2023

The aim is to identify, through a sociological survey of legitimate representatives of children with autism spectrum disorders (ASD), the problems that they face in their lives, to further improve the provision of medical and social assistance.

Materials and methods. A survey of legal representatives of ASD minors (aged 1–11 years) was conducted.

Results. The study of the living conditions of a child with autism in the family, the assessment by parents of his state of health, problems arising in the registration of disability, in the provision of medical and rehabilitation assistance and issues of medical and social support made it possible to determine the situation of this group of the child population in modern medical and social conditions. The main problems were the collection of a large number of documents during the registration of disability, the long wait for the day of examination, the remoteness of the location of the medical and social examination bureau, the lack of specialist doctors, the lack of consideration of the individual needs of the child when conducting individual rehabilitation programs, the need to contact various institutions and departments, the lack of medical and social assistance, violation of rights in the provision of medical services to a child with autism.

Conclusion. It is necessary both to expand research aimed at studying etiopathogenetic factors and developing strategies for the prevention and early diagnosis of autistic disorders in childhood, destigmatization, and educational work in society.

Contribution:
Vinyarskaya I.V., Kuzenkova L.M. — concept and design of the study;
Lashkova А.V., Terletskaya R.N. — collection and processing of material;
Chernikov V.V. — statistical processing;
Terletskaya R.N., Lashkova А.V. — writing of the text;
Vinyarskaya I.V. — editing.
All co-authors — approval of the final version of the article, responsibility for the integrity of all part of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 20, 2023
Accepted: May 16, 2023
Published: June 27, 2023

Introduction. The relatively stable incidence of most controlled infections shifts the focus of public attention from the need for vaccination to the likelihood of post-vaccination complications.

Aim. To examine the adherence of various population groups and health workers to vaccine prophylaxis and analyze the reasons for anti-vaccination scepticism.

Materials and methods. A survey was conducted on the attitudes towards vaccination among one thousand nine hundred thirty nine respondents including 485 doctors of various specialties (163 pediatricians, 86 surgeons, 85 obstetricians-gynecologists, 76 neurologists, 75 neonatologists), 117 nurses, 295 parents, 1042 students. The significance of differences was assessed using Student’s t-test.

Results. An insufficient level of adherence to vaccine prophylaxis has been established: 43.1% of parents vaccinate their children selectively, 35.4% according to the national calendar, 17.1% refuse categorically, and 4.4% have a medical refusal. The main reason for refusal is fear of complications (30%). Less than half receive information from health workers (45.6%), the main source being the media (49.1%). Among health workers, adherence to vaccine prophylaxis is highest among pediatricians (86.1%), significantly lower among neurologists (35.6%), surgeons (43.7%), obstetricians-gynecologists (62.6%), nurses (79.5%). The main reason for distrust of vaccination is fear of post-vaccination complications, narrow specialists more often choose the answer “better to get sick”. Among medical university students there is a significantly higher adherence among senior students in paediatrics (63.6%) compared to students in undergraduate (40.8%) and medical school (48.8%). However, 5% of those surveyed do not plan to vaccinate their children in the future. Polytechnic students have a more negative attitude towards vaccination accounted for only 36.4% vaccinated according to the National Calendar and 30% do not plan to vaccinate their children in the future.

Conclusion. There is a clear need for additional training programs on vaccination to raise the awareness of health care workers on this issue, which will provide a strong rationale for the importance of immunization to patients and their parents.

Contribution:
Sutovskaya D.V. — concept and design of research, editing;
Sutovskaya D.V., Pyzhyanova P.A., Gabdullina E.V., Kuzmenko A.V. — collection and processing of material;
Sutovskaya D.V., Makunts A.A. — statistical processing;
Sutovskaya D.V., Pyzhyanova P.A., Gabdullina E.V. — writing the text.
All coauthors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgement. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 17, 2023
Accepted: May 16, 2023
Published: June 27, 2023

The review shows the relationship of vitamin D deficiency (VDD) with various forms of pathology of the gastrointestinal tract. The VDD prevalence in Russia has regional and age characteristics and reaches 42%. In addition to the key role as a regulator of calcium metabolism, which ensures the growth and formation of the structure of bone tissue, vitamin D was established to affect the course of various forms of pathology of the gastrointestinal tract.  At the same time, it acts as a regulator of innate immunity.  In other cases, the effects of vitamin D are aimed at activating anti-inflammatory factors, which determine its positive effect on the course of diseases through antioxidant action.  Data on the VDD impact on the formation of various forms of intestinal pathology with an inflammatory and immune mechanism of development are presented. The authors point to the VDD impact in inflammatory bowel diseases.  Regardless of the VDD primacy of inflammatory bowel disease, the correction of the VDD has a pronounced positive effect on the course of the disease.

Contribution:
Polivanova T.V. — concept and design of the study;
Vshivkov V.A. — collection and processing of material;
Vshivkov V.A., Anikina K.A. — statistical processing;
Polivanova T.V., Anikina K.A. — writing the text;
Polivanova T.V. — editing.
All co-authors — approval of the final version of the article, responsibility for the integrity of all part of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 21, 2023
Accepted: May 16, 2023
Published: June 27, 2023

The incidence and prevalence of urolithiasis have been increased over the last decade. Most kidney stones in children are composed of either calcium oxalate or calcium phosphate and often associated with metabolic disorders. Typical symptoms of urolithiasis in children include abdominal or lower back pain, hematuria, and in acute cases dysuria, fever, or vomiting also occur. Ultrasound of the urinary tract is the first choice for children urolithiasis because it can be used to detect most of symptomatic stones. X-rays or computed tomography are also used. Treatment for kidney stones includes diet, drug therapy, and surgery. Surgical treatments for urolithiasis in children include extracorporeal shock wave lithotripsy, contact lithotripsy, percutaneous nephrolithotomy and open lithotomy. This review describes the epidemiology, etiology, pathogenesis, and clinical symptoms and treatment of urolithiasis in children.

Contribution:
Kyarimov I.A. — research concept and design of the study, data research and analysis, preparation of publication, editing.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The author declares no conflict of interest.

Received: April 20, 2023
Accepted: May 16, 2023
Published: June 27, 2023

Serratia marcescens (SM) is among the most relevant pathogens of opportunistic infections. This review contains an analysis of the literature data on the importance of serrations in medical practice. Molecular genetic predictors of virulence and antibiotic resistance of this pathogen were analyzed in detail. The review discusses the main methods of typing SM. Various local and generalized s of infections caused by SM are described.

Contribution:
Sadeeva Z.Z., Lazareva A.V. — research concept and design of the study, text writing;
Sadeeva Z.Z., Novikova I.E., Alyabyeva N.M. — collection and processing of material;
Lazareva A.V., Alyabyeva N.M. — editing. 
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 26, 2023
Accepted: May 16, 2023
Published: June 27, 2023

Introduction. Roifman syndrome is a rare hereditary autosomal recessive disease, often associated with primary immunodeficiency and spondyloepiphyseal dysplasia. The cause of the disease is a splicing disorder due to a mutation of the RNU4ATAC gene with the formation of an incorrect protein structure, which in turn leads to clinical polymorphism.

Purpose: demonstration of own clinical observation of the 5-year girl with Roifman syndrome.

Materials and methods. An analysis of the literature on the stigmas of dysembriogenesis, clinical manifestations, changes in the immune system that determine the formation of Roifman syndrome was carried out.

Results. The features of the course and variability of manifestations in the particular patient with Roifman syndrome are described. The variety and non-specificity of clinical symptoms in Roifman syndrome in the 5-year girl is shown. Timely diagnosis after complete sequencing by Sanger made it possible to identify a complex heterozygous mutation in the RNU4ATAC gene and start adequate therapy.

Contribution:
Zokirov N.Z., Zyabkin I.V., Sytkov V.V. — research concept and design;
Zokirov N.Z., Krutova A.V., Nikolaeva Y.S., Mukhortykh V.A. — material collection and processing;
Krutova A.V., Nikolaeva Y.S., Mukhortykh V.A. — text writing;
Zokirov N.Z., Isaeva E.P., Sytkov V.V., Mukhortykh V.A. — editing.
All co-authors — approval of the final version of the article, responsibility for the integrity of all part of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: April 12, 2023
Accepted: May 16, 2023
Published: June 27, 2023