Алтайский филиал Федерального государственного бюджетного учреждения «Гематологический научный центр», Министерства здравоохранения РФ, директор-д. м. н., проф. А. П. Момот; 3 КГБУЗ Алтайская краевая клиническая детская больница, гл. врач-к. м. н., К. В. Смирнов. v%+< (11+%$."-(?. Установить частоту носительства полиморфных аллельных вариантов генов факторов свертывания крови у подростков г. Барнаула.
Aim is to develop a comprehensive program of restorative treatment of posture disorders in children against the background of connective tissue dysplasia. Materials and methods. Ninety children aged from 4 to 17 years were under observation. Of these, 60 patients with connective tissue dysplasia (CTD) were divided into an experimental group (30 children) and a comparison group (30 children). These CTD children were under medical supervision from 2010 to 2020. The reference group consisted of 30 conditionally healthy children of the same age. All children were comprehensively examined. All СTD patients during the entire period of dispensary observation underwent comprehensive restorative treatment using methods of physical therapy, swimming and teaching patients at the educational school “Posture Correction” for children. The data obtained were processed statistically. Results. Characteristic signs of hereditary disorders of connective tissue development were revealed in all CTD children. An increase in the concentration of oxyproline in the blood serum and an increase in urinary excretion of oxyproline and calcium were found. After 5 years from the start of rehabilitation measures, there was an increase in endurance of the back muscles, a minimum number of pathological manifestations, including arthritis, arthralgic syndromes, coccygodynia. Ten years later, at the age of 14 years, the children of the experimental group formed a good posture, a well-off muscular corset and a minimal number of complications. Patients of the comparison group during the observation process more often complained of a feeling of fatigue, prolonged, incurable pain in the thoracic and lumbar spine, weak muscle corset. Conclusion. If CTD signs are detected in children, long-term dispensary observation should be carried out in outpatient conditions with the inclusion of a set of exercises of physical therapy and other rehabilitation measures. With the initial CTD manifestations on the part of the spine, children should be recommended to use a back support or a semi-rigid corset for the duration of increased loads, lessons, and long training sessions.
Introduction. In the adult population, a high prevalence of the gastroesophageal reflux disease (GERD) and irritable bowel syndrome (IBS) can vary from 3 to 79%. As for children, there are a few works on the overlap between functional dyspepsia and IBS, GERD and functional constipation. Aim. To determine the prevalence of overlap of the GERD syndrome with irritable bowel syndrome and functional dyspepsia in school-age children. Materials and methods. The study included ninety eight cases including 71 boy and 27 girls, aged of 7 to 17 years (mean age 11.4 ± 2.1 years) suffered from erosive GERD. The comparison group consisted of 30 patients (11 boys and 19 girls), of mean age of 12.7 ± 1.8 years without erosive GERD). The criterion for inclusion in the main group was the presence of erosive changes in the esophagus according to fibrogastroduodenoscopy, in the comparison group the — manifestation of heartburn, with occurrence, at least twice a week over the past three months and the absence of erosive changes in the esophagus according to fibrogastroduodenoscopy. The exclusion criterion was the presence of organic pathology with sides of the upper (peptic ulcer, etc.) and lower parts of the digestive tract (ulcerative colitis, Crohn’s disease, etc.) Results. Every fourth GERD patient (25.8%) has an overlap with functional bowel diseases, while GERD is more often combined with IBS with diarrhea (15.6%) than IBS with constipation/functional constipation (10.2%). Overlap of IBS with postprandial distress syndrome is much less common — only in 7.0% of children. Conclusion. School-age GERD children are characterized by frequent overlap with functional bowel diseases, the frequency of which reaches 25.8%. The combination of all three diseases (IBS, GERD and postprandial distress syndrome) was observed in 2.3% of cases. These patterns are typical for patients with both erosive and non-erosive forms of GERD.
Исследование проводилось с целью определения частоты встречаемости протромботических полиморфизмов генов системы гемостаза и фолатного метаболизма у подростков, занимающихся спортом, оценки качества жизни на фоне нормального и повышенного уровня гомоцистеина. Выявлена достоверно значимая частота гетерозиготного полиморфизма гена фибриногена (-455) GА FGB и гетерозиготного полиморфизма гена тромбоцитарного рецептора к фибриногену 1565 TC GPIIIa (р<0,05) в группе подростков-спортсменов. При сравнении полиморфизмов генов фолатного цикла определено, что гетерозиготный вариант генотипа 1298 AC гена MTHFR и гетерозиготный полиморфизм гена 66 AG MTRR чаще встречались в группе спортсменов, чем в группе детей, не занимающихся спортом (р<0,05). Сравнение показателей качества жизни подростков-спортсменов проводили с учетом уровня гомоцистеина в крови. Выявлено, что в группе спортсменов с повышенным уровнем гомоцистеина достоверно снижен показатель психосоциального здоровья (р<0,05). В ходе исследования проведена оценка параметров качества жизни спортсменов при повышенном содержании гомоцистеина в крови и после терапии препаратами фолиевой кислоты. Результаты исследования показали, что на фоне приема препаратов фолиевой кислоты значимо улучшился показатель социального функционирования (р<0,05). Ключевые слова: качество жизни, гомоцистеин, полиморфизмы генов, фолатный цикл.
Introduction. Quality of life (QL) reflects the full picture of the state of health of the child and provides important information that goes beyond the clinical symptoms. Therefore, taking into consideration features of QL parameters of adolescents - carriers of polymorphisms of genes of the folate cycle is extremely important for preventing long-term adverse effects (depression, cognitive impairment, psycho-emotional lability). Purpose of the study. Determination of QL of adolescents with polymorphic substitutions in the genes of the folate cycle and the presence of hyperhomocysteinemia (HHC). Materials and method. Under observation there were 157 boys aged of 16-17 years. The general questionnaire - Pediatric Quality of Life Inventory (PedsQL™ 4.0) was used as a tool for studying QL of observed cases. Determination of allelic variants of folate cycle genes was carried out in the Laboratory of Molecular Genetics. There was applied the lay-based analysis method of polymerase chain reaction in real time (Real-Time PCR) with using the TaqMan probes competing. Results. In the presence of heterozygotes or homozygotes compound gene MTHFR, MTR, MTRR in adolescents, there was noted a statistically significant reduction in QL indices in emotional and school functioning, psychosocial health and total score. HHC in adolescents was found to significantly reduce the QL indices of emotional, school functioning, psychosocial health and total score. Homocystein level in blood plasma is adjusted when assigning folic acid, resulting in a significant improvement of QL in adolescents. Conclusion. In order to prevent long-term negative effects (depression, emotional lability, cognitive impairments, mental illness, thrombosis), it is worth to carry out a study of QL in adolescents with assessment both of polymorphic substitutions in the genes of the folate cycle and the level of homocysteine in the blood plasma for the timely prescription folate, vitamin correction and improvement QL in adolescents.
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