Primary ciliary dyskinesia (PCD) is a rare hereditary disease from the group of ciliopathies, which is based on a defect in the cilia ultrastructure of the respiratory epithelium and similar structures (sperm flagella, villi of the fallopian tubes, ventricular ependyma, etc.), leading to motor function impairment. The prevalence of the disease varies significantly around the world and is not known reliably in the Russian Federation.The aim of the review was to analyze literature data on modern approaches to the diagnosis and treatment of PCD.Methodology. The data of 90 articles and the opinions of experts providing care to patients with PCD were used.Results. The classic manifestations of PCD depend on age. The leading manifestations of the disease in patients with PCD are recurrent inflammatory diseases of the upper and lower respiratory tract (bronchitis, pneumonia), with the formation of bronchiectasis, damage to the ENT organs (chronic rhinitis, rhinosinusitis, nasal polyposis, repeated otitis media, progressive hearing loss). Currently, there is no single method which could serve as a “gold” standard for diagnosing PCD. The diagnosis of PCD is based on the characteristic clinical picture in combination with the results of special tests (nitric oxide in exhaled air, DNA diagnostics, high-speed video microscopy, transmission electron microscopy). The genetic diagnostics has not been developed sufficiently in the global practice yet and is unavailable in our country. The approach to the treatment of a patient with PCD should be multidisciplinary due to multiple organ lesions. According to the European consensus, the goal of PCD therapy is to restore or maintain normal lung function. There have been no randomized trials of treatment for PCD, and therefore all treatment recommendations are based on very low-level evidence or extrapolated from cystic fibrosis guidelines. Recommendations on mucolytic, antibacterial and anti-inflammatory therapy of PCD are given with consideration for the international and domestic experience.Conclusion. The development of a new version of clinical guidelines containing up-to-date relevant information will improve the diagnosis and treatment of PCD in the Russian Federation.
Objective. To assess serum 25(OH)D levels in patients with various diseases living in Moscow and the Moscow region, considering the season of the year and age. Patients and methods. A cross-sectional uncontrolled diagnostic trial was performed. It included 10.707 people: 8,441 (78.8%) women and 2,266 (21.2%) men; children accounted for 15% (1,501 children) and adults – for 85% (9,206 people); the mean age of adults was 49.86 ± 21.92 years and that of children – 13.45 ± 11.76 years. Results. The maximum prevalence of severe 25(OH)D deficiency was revealed among patients with neoplasms (48.9%); patients with diseases of the musculoskeletal system and connective tissue had severe 25(OH)D deficiency in 16.9% of cases, with urogenital diseases – in 19.6% of cases, with digestive diseases – in 19.0% of cases, with perinatal diseases – in 15.7% of cases, with diseases of blood and hematopoietic organs – in 22.3% of cases, which proved to be 2-3 times more frequent compared to individuals with diseases of other classes. Individuals who underwent preventive examination had the lowest prevalence (1.4%) of severe 25(OH)D deficiency. In case of diseases with chronic progressive autoimmune inflammation (type 1 diabetes mellitus (DM), rheumatoid arthritis (RA)), neoplasms, as well as in complications of diseases of various pathogenesis, such as chronic kidney disease (CKD), vitamin D deficiency was observed throughout the year, which did not correspond to increasing daylight hours. Children with perinatal diseases and born preterm had low levels and severe deficiency of 25(OH)D, which occurred immediately after birth. Conclusion. The prevalence of vitamin D deficiency was 82.9%; the lowest serum 25(OH)D levels were recorded in winter and spring. Severe year-round serum 25(OH)D deficiency was revealed in patients with autoimmune diseases and chronic kidney disease. Key words: adults, vitamin D, inflammation, 25(OH)D, children, deficiency, seasons of the year
COVID-19 у детей с бронхиальной астмой: клинические проявления, варианты течения, подходы к терапии 1 Федеральное государственное автономное образовательное учреждение высшего образования Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет), 119991, г. Москва, Российская Федерация 2 Государственное бюджетное учреждение «Детский бронхолегочный санаторий № 15 Департамента здравоохранения города Москвы», 117647, г. Москва, Российская Федерация 3 Государственное бюджетное учреждение здравоохранения Московской области «Детский клинический многопрофильный центр Московской области», 141009, г. Мытищи, Российская Федерация Резюме Введение. Бронхиальная астма (БА) -одно из самых распространенных хронических заболеваний легких у детей. В начале пандемии COVID-19 БА, как и другие заболевания легких, считалась фактором риска тяжелого течения COVID-19.Цель исследования -анализ основных клинических проявлений COVID-19 у детей с БА.Материал и методы. Проведено анкетирование 500 детей с БА, наблюдавшихся в пульмонологическом отделении УДКБ Сеченовского Университета с января 2020 г. по январь 2021 г., из которых COVID-19 болели 3 % (15 детей). Кроме того, проанализирована клиническая картина COVID-19 у 75 детей с БА и 53 детей без БА, наблюдавшихся амбулаторно и в пульмонологическом санатории № 15 ДЗ г. Москвы.Результаты. Показано, что симптомы COVID-19 могут быть схожи с симптомами обострения астмы и проявляться сухим кашлем, одышкой и повышением температуры, которое может наблюдаться и при обострениях астмы на фоне респираторной инфекции любого генеза.Заключение. На основании фактического клинического материала было показано, что новая коронавирусная инфекция протекает у детей легче, а у пациентов с БА среди заболевших -с менее выраженными клиническими симптомами.
The problem of timely diagnosis and proper management of patients with cystic fibrosis is crucial not only in our country, but throughout the world. Experts of the Union of Pediatricians of Russia have considered various issues of etiology, pathogenesis, epidemiology, diagnosis, and treatment of this genetic disease in a modern light. Particular attention was paid to screening methods for early diagnosis of cystic fibrosis. The principles of complex therapy were justified, including rational use of antibacterial and mucolytic drugs and enzyme replacement therapy that significantly determine the disease prognosis.
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
Numerous epidemiological studies demonstrate that cystic fibrosis, the most common orphan disease in the world, can not occur in isolation, but can be combined with other serious diseases. The most common such combination in all populations is traditionally cystic fibrosis and celiac disease, which, on the one hand, differ in the leading mechanism of inflammation, in cystic fibrosis - chronic microbial inflammation, in celiac disease - autoimmune, on the other hand, these two diseases have a number of common pathogenesis links, in particular, realizing the syndrome of malabsorption, which only complicates the timely diagnosis of these combined pathological conditions. In addition, the authors of the literature review focus on clinical examples of late detection of autoimmune gluten intolerance against the background of cystic fibrosis. They also consider the combination of cystic fibrosis with other severe, disabling diseases (rheumatoid arthritis, phenylketonuria, oncological diseases), which sometimes require a serious change in therapeutic tactics.
Heterotopic pancreas (HPG) is an aberrant anatomical malformation that is most commonly located in the upper gastrointestinal tract. The presence of an aberrant pancreas in most cases is asymptomatic, but in a number of clinical situations it is accompanied by symptoms that require drug therapy, sometimes surgical or endoscopic intervention. Analysis of the clinical manifestations and symptoms of BPH is important in choosing the tactics of treating patients. The difficulty lies in the fact that there is not enough information on BPH in the literature, there are no data from a study in a large cohort of patients with BPH. The purpose of the publication is to review clinical cases, including our own observation, and compare them with a systematic review of the literature in order to draw conclusions about the features of clinical manifestations, pathomorphosis and modern principles of treatment of the disease.
The main problem of research on vitamin D sufficiency is the lack of an integrated approach, that is, a dynamic assessment of 25(OH)D throughout the entire period of childhood and in different seasons of the year. This is necessary to highlight those specific diseases in which priority targeted prevention and therapy of hypovitaminosis will be indicated, taking into account the numerous biological and pathophysiological effects of vitamin D metabolites, in particular, 25(OH)D, which have socially significant clinical consequences. The aim of the study: to assess the level of 25(OH)D in children with various diseases living in Moscow and the Moscow region, taking into account the season of the year and age. Materials and methods. A study was made of the availability of 25(OH)D among 1501 children living in Moscow and the Moscow regions. Discussion. A high frequency of severe vitamin D deficiency was found among children with oncological diseases (41.7%), diseases of the nervous system (12.9) and blood system (10.9). It was shown that 25.0% of children with cerebral palsy, 19.4% of children with chronic kidney disease, 16.7% with type 1 diabetes mellitus, 15.5% with juvenile idiopathic arthritis have a pronounced deficiency of 25(OH)D, 14.8% of patients with anemia, 10.3% with inflammatory bowel disease, 7.9% of children born prematurely. Conclusion. Severe and year-round disorders of 25(OH)D metabolism were noted in children suffering from autoimmune (type 1 diabetes mellitus, inflammatory bowel disease, idiopathic juvenile arthritis), oncological diseases, cerebral palsy, prematurity, and chronic kidney disease.
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