Introduction. Carrying out studies on the supply of vitamin D in the Russian population is an important task in order to demonstrate the global nature of the problem of vitamin D deficiency.Objective of the study. To conduct a study of the level of vitamin D at different age periods and to assess the relationship of the 25(OH)D supply with the seasons of the year.Materials and methods. The study included 10707 people, 78.8% (n = 2323) women and 21.2% (n = 2266) men, mean age 49.86 ± 21.925 years (Me 56.00).Results. Only 17.1% (n = 1833) of the examined had an adequate level of 25(OH)D, 31.4% (n = 3362) people had an insufficient level of 25 (OH) D, 43.7% (n = 4681) of the examined – a deficiency of 25(OH)D and among 7.8% (n = 831) a severe deficiency of 25(OH)D was revealed. An adequate level of 25(OH)D was found only in the group of children under 3 years of age (mean value 40.55 ng/ml). From 4 to 7 years of age, there is a pronounced 2-fold decrease in the concentration of 25(OH)D in all seasons of the year. A consistently low content of 25(OH)D is observed in the period 8-10 years – 20.91 ng / ml, and in the period 11-18 years – 18.30 ng/ml. The lowest average values of 25(OH)D were found at the age of 11-18 years (18.30 ng/ml) and from 19 to 22 years (19.15 ng/ml), as well as in senile (76 years and above) age (19.05 ng/ml). The lowest median concentration of 25(OH)D is recorded in spring (17.70 ng/ml) and winter (18.80 ng/ml), with a slight positive trend in summer (20.40 ng/ml) and autumn (22.00 ng/ml) season.Conclusions. The optimal level of 25(OH)D was found in every fifth (17.1%) subject, vitamin D deficiency (20.01–30.00 ng/ml) was observed in every third (3362 people out of 10707 examined, 31.4%), a moderate calcidiol deficiency is recorded among 4681 people (43.7%), a severe deficiency of 25 (OH) D among the surveyed is 7.8%.
Objective. To study the features of liver cirrhosis (LC) in patients with cystic fibrosis (CF) and the course of the disease after liver transplantation according to the 2019 registry. Materials and methods. We analyzed the data of 3111 patients with recorded data on the state of the liver in the register of 2019 in age groups: children under 18, children from 9 to 18, adults. LC was diagnosed in 190 patients, including 121 (63.7%) with LC with portal hypertension. LC was more often recorded in the male group – 62.4% (p = 0.015). The age at diagnosis in the group of children with LC was higher – 0.7 (2.5) years, than in the group without liver damage – 0.2 (0.8) years (p = 0.01). "Severe" mutations were characteristic of patients with LC and hypertension in all age groups. The body mass index of children (aged 2–18 years) in the group with LC with hypertension was Me = 21.5 (42.3), and in the group without liver damage Me = 29.8 (49.3), p = 0.008. Chronic colonization of the respiratory tract by Pseudomonas aeruginosa in the group of patients with LC and hypertension was more common than in children without liver damage (46.2% versus 24.4%, p < 0.001). By 2019, 12 patients have received liver transplantation. After liver transplantation, in the first three years, there is an increase in function of external respiration and nutritional status of patients. Conclusion. LP with portal hypertension is more common in children aged 9–18 years, patients are characterized by a predominance of males, "severe genotypes", low indices of physical development, a high frequency of pathogenic microbial agents of the respiratory tract and complications, which leads to a significant reduction in life. Key words: genotype, cystic fibrosis, nutritional status, portal hypertension, liver transplantation, lung function, cirrhosis
Primary ciliary dyskinesia (PCD) is an orphan disease associated with mutations in several genes. It is a ciliopathy, an abnormality of the cilia and flagella. Ciliopathies include the extremely rare Simpson - Golabi - Bemel syndrome (SSGB) type II.The aim of this article is to familiarize the reader with the possibility of simultaneous presence of type II SSGB and PCD in a patient with bronchiectasis (BE).Results. The first clinical observation in the Russian literature is presented withhistory, physical examination, including clinical and morphologic examination, results of additional investigations and initiation of therapy. The case describes a 15-year-old patient with BE and other lesions typical of PCD confirmed on the basis of structural changes in the cilia of the respiratory epithelium of the trachea detected by transmission electron microscopy. The patient had a pathogenic mutation of the OFD1 gene responsible for the development of both type II SSGB and PCD.Conclusion. Several variants of ciliopathies may occur in one patient, and PCD may present as a syndrome.
Primary ciliary dyskinesia (PCD) (Online Mendelian Inheritance in Man - OMIM - #242650) is a rare hereditary disease, which is based on a defect in the ultrastructure of the cilia epithelium of the respiratory tract which leads to the motor function disorder. Data about health characteristics of patients with PCD in the Russian Federation are incomplete.The aim of the study was to investigate the clinical, laboratory, and instrumental characteristics of patients with PCD.Methods. The data of 90 patients (22 adults (24.4%) and 68 children (75.6%)) from several medical centers were studied. The following methods were used: medical history, spirometry, microbiological examination of the respiratory tract, video microscopic analysis of the functional activity of the nasal mucosa ciliated epithelium, transmission electron microscopy of the ciliated epithelium, and DNA testing.Results. The median age at diagnosis was 17.0 years for adults and 5.0 years for children. Kartagener syndrome was detected in 23 (27%) people, including 6 (26.0%) adults. Hearing loss was noted in 5 (26.3%) adult patients and 15 (26.8%) children. Light microscopy of the ciliated epithelium was performed in 14 (82.3%) children and 3 (17.7%) adults. In 12 patients, cilia motor activity was not registered at each of the magnifications (x 100, x 400, x 1,000). Transmission electron microscopy showed that absence ofinternal and external dynein handles (51%) and absence of internal dynein handles (17.9%) were the most common disorders. DNA testing was performed in 55 (61.2%) patients: 16 (29.1%) adults and 38 (70.9%) children. The most common genetic variants were found in the DNAH5 and HYDIN genes. Lung function was reduced in both adults and children, but a significant decrease was noted in adult patients. P. aeruginosa predominated in the culture and accounted for 21.3% (intermittent detection in 13.2%, persistent detection in 9%). It has increased resistance to antibiotics.Conclusion. The results correlate with the European data. Infection caused by P. aeruginosa with the increased resistance to antibiotics was prevalent in patienths with PCD.
Objective. To study the associative relation between genetic variants (c.1206T>C, c.1175-9G>T, c.152T>C, c.1174+283G>A) of the VDR gene with clinically significant manifestations of bronchial asthma, complications and response to therapy. Patients and methods. The analysis of variants of FokI, TaqI, BsmI of the VDR gene was carried out in 160 patients with bronchial asthma. Results. The combination of asthma and allergic rhinitis was more often observed with genotypes AA and GA c.1174+283G>A compared with GG (p = 0.021), allele A compared with G (p = 0.023), TT and CT c.1206T>C(A>G) TaqI vs. CC (p = 0.003), allele T compared to C (p = 0.003). The combination of symptoms of the "atopic march" was more often recorded in TT genotype c.1206T>C(A>G) TaqI compared to TC and CC (p = 0.046), AA and GA c.1174+283G>A versus GG (p = 0.017) and allele A compared to G (p = 0.021). The protective effect on the severity of asthma is expressed in the CC genotype c.1206T>C(A>G) TaqI compared to TC and TT (p = 0.035), the C allele versus T (p = 0.040), as well as in relation to the control for CC and CT compared to TT c.1206T>C(A>G) TaqI (p = 0.048) and allele C vs T (p = 0.024). The risk of omalizumab administration is lower for CC and TC genotypes c.1206T>C(A>G) TaqI compared to TT (p = 0.037) and for the C allele compared to T (p = 0.035). Vitamin D availability is lower for TT and TC genotypes c.152T>C FokI compared to CC genotype (p = 0.045). Conclusion. The genetic risk of realization of phenotypic manifestations of asthma – severity, level of control, combination of symptoms of "atopic march" and response to therapy for all studied polymorphic variants of the VDR gene is described. Key words: asthma, VDR gene, vitamin D, inflammation, children, 25(OH)D
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