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Tracheal stenosis and diaphragm relaxation of post-COVID origin covid后起源的气管狭窄和膈肌松弛
Pulmonologiya Pub Date : 2023-06-08 DOI: 10.18093/0869-0189-2023-3515
D. V. Bazarov, A. Yu. Grigorchuk, G. A. Kazaryan, K. O. Abdumuradov, D. G. Kabakov
{"title":"Tracheal stenosis and diaphragm relaxation of post-COVID origin","authors":"D. V. Bazarov, A. Yu. Grigorchuk, G. A. Kazaryan, K. O. Abdumuradov, D. G. Kabakov","doi":"10.18093/0869-0189-2023-3515","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-3515","url":null,"abstract":"Pandemic of the new coronavirus infection has presented the medical community with challenges that call for immediate action. An increase in the number of severe cases of COVID-19 requiring mechanical ventilation inevitably leads not only to an increase in the complication rates, but also to combined complications. A clinical case of a combined tracheal stenosis and diaphragm after severe COVID-19 is presented here. The aim of this publication was to improve treatment outcomes of patients with multiorgan complications of post-COVID origin. Conclusion. Combined complications of a severe coronavirus infection worsen the rehabilitation prognosis, and require surgical treatment.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"15 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135323304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The role of nonspecific proteolysis in the development of alterative changes in lung tissue when using electronic cigarettes 当使用电子烟时,非特异性蛋白水解在肺组织变化发展中的作用
Pulmonologiya Pub Date : 2023-06-08 DOI: 10.18093/0869-0189-2023-33-3-342-349
L. L. Aliyev, M. Aliyev, P. E. Maximova, T. Makalish, A. Kubyshkin, E. Zyablitskaya, A. V. Grigoryants, Ya. Karyophyllidis, D. I. Mitrushkin
{"title":"The role of nonspecific proteolysis in the development of alterative changes in lung tissue when using electronic cigarettes","authors":"L. L. Aliyev, M. Aliyev, P. E. Maximova, T. Makalish, A. Kubyshkin, E. Zyablitskaya, A. V. Grigoryants, Ya. Karyophyllidis, D. I. Mitrushkin","doi":"10.18093/0869-0189-2023-33-3-342-349","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-3-342-349","url":null,"abstract":"In recent years, the number of electronic cigarettes (ES) users has been growing steadily around the world. ES heat and vaporize components of a mixture of propylene glycol, vegetable glycerin, nicotine, and flavors. Reports of severe forms of lung injury caused by the use of ES, some of which have resulted in death, urge studying the pathogenetic mechanisms of such complications. One of the mechanisms is the activation of nonspecific proteolysis accompanied by the destruction of connective tissue components of the blood-air barrier.Aim of the study. To study the dynamics of the proteinase-inhibitor system indicators and its role in the morphological changes of lung tissue in experimental modeling of the effects of ES.Methods. Experimental studies were performed in 24 white male Wistar rats weighing 160 – 180 g. ES use of was simulated by intermittent exposure to smoke mixture vapors using a POD system connected to a two-channel compressor.Results. Analysis of the state of the nonspecific proteinase inhibitory system in rat broncho-alveolar lavage and blood serum and the results of morphological studies indicate activation of trypsin-like proteinases and depletion of the local antitryptic potential, leading to biochemical changes with subsequent structural changes in lung tissue. The latter are characterized by congestion, leukocyte infiltration, and stromal proliferation. In addition, exposure to nicotine-containing mixtures has been shown to affect the proteinase inhibitory system and blood serum composition, which is associated with a compensatory increase in antitrypsin activity.Conclusion. The results of the study indicate the activation of trypsin-like proteinases in broncho-alveolar lavage, which have a damaging effect on lung tissue, leading to disturbances in tissue hemodynamics, extravasation of leukocytes, remodeling and thickening of the blood-air barrier.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74070969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efficacy of benralizumab in severe eosinophilic asthma: an interim analysis of a real clinical practice prospective study BEST in Russia benralizumab治疗严重嗜酸性粒细胞哮喘的疗效:俄罗斯一项真实临床实践前瞻性研究的中期分析
Pulmonologiya Pub Date : 2023-06-08 DOI: 10.18093/0869-0189-2023-33-3-374-385
D. Fomina, G. Ignatova, T. Kabanova, A. Kameleva, L. Kozyreva, N. Kosyakova, L. M. Kudelya, N. Kuzubova, I. V. Leshсhenko, O. A. Mukhina, L. V. Shulzhenko
{"title":"Efficacy of benralizumab in severe eosinophilic asthma: an interim analysis of a real clinical practice prospective study BEST in Russia","authors":"D. Fomina, G. Ignatova, T. Kabanova, A. Kameleva, L. Kozyreva, N. Kosyakova, L. M. Kudelya, N. Kuzubova, I. V. Leshсhenko, O. A. Mukhina, L. V. Shulzhenko","doi":"10.18093/0869-0189-2023-33-3-374-385","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-3-374-385","url":null,"abstract":"Systematizing clinical experience in the use of biological treatments in patients with severe bronchial asthma in real world settings with assessment of clinical outcomes and quality of life level is of great interest and value in practical pulmonology.The aim of the BEST study (Real World Evidence of Benralizumab in Eosinophilic Severe AsThma in Russia) was to evaluate effectiveness of benralizumab by control and quality of life associated with respiratory status in patients with eosinophilic phenotype of severe asthma in real clinical practice in Russia.Results. The results obtained through 16 weeks of benralizumab therapy in patients with severe eosinophilic asthma (SEA) were analyzed. All 59 enrolled patients showed significant improvement in the asthma control questionnaire (ACQ-5) score, the quality of life associated with respiratory status according to the St. George Respiratory Questionnaire (SGRQ), and subjective assessments of the well-being of patients and the disease severity (PGIC and PGIS). Treatment with benralizumab contributed to a reduction in the oral glucocorticosteroids intake throughout the study period.Conclusion. In real clinical practice, treatment with benralizumab results in significant improvement in disease control and the quality of life in patients with severe eosinophilic asthma and is characterized by a favorable safety profile.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"61 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87493825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Psychosomatic functional disorders in pulmonary practice 肺科实践中的心身功能障碍
Pulmonologiya Pub Date : 2023-06-08 DOI: 10.18093/0869-0189-2023-33-3-386-392
S. Ovcharenko, D. V. Troshina, P. S. Sokolova, B. A. Volel
{"title":"Psychosomatic functional disorders in pulmonary practice","authors":"S. Ovcharenko, D. V. Troshina, P. S. Sokolova, B. A. Volel","doi":"10.18093/0869-0189-2023-33-3-386-392","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-3-386-392","url":null,"abstract":"The relevance of studying psychosomatic disorders in somatic clinical practice (including pulmonary practice) stems from the significant prevalence of these disorders, as well as the difficulties in making a differential diagnosis and choosing the most effective tactics for patient management.The aim of this review was to analyze the available publications on the problem of psychosomatic functional disorders in pulmonary practice, such as hyperventilation syndrome (HVS), including HVS associated with Severe Acute Respiratory Syndrome-related CoronaVirus 2 (SARS-CoV-2) infection, vocal cord dysfunction, and psychogenic cough. The article discusses clinical features of different variants of functional disorders and accompanying psychopathological symptoms (panic attacks, generalized anxiety, etc.), as well as psychogenic factors of their manifestation and changes in the clinical features over time. The corresponding section briefly summarizes current ideas about approaches to effective treatment of this group of disorders and prevention of their chronification.Conclusion. The clinical heterogeneity of psychosomatic functional disorders in pulmonological practice has been demonstrated, as have important aspects of the diagnosis and treatment of these disorders.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"209 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74518205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pulmonary contusion: clinical reasoning 肺挫伤:临床推理
Pulmonologiya Pub Date : 2023-06-08 DOI: 10.18093/0869-0189-2023-33-3-408-413
A. Chuchalin, A. A. Zaitsev, N. A. Kulikova, V. I. Likhodiy, D. Davydov
{"title":"Pulmonary contusion: clinical reasoning","authors":"A. Chuchalin, A. A. Zaitsev, N. A. Kulikova, V. I. Likhodiy, D. Davydov","doi":"10.18093/0869-0189-2023-33-3-408-413","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-3-408-413","url":null,"abstract":"According to statistics, chest injuries rank third in prevalence and are characterized by high mortality, which is 35 – 45%. This article presents a patient diagnosed and treated for bilateral pulmonary contusion with post-traumatic pneumonitis after a combined mine-explosive injury.Purpose. Of particular interest to the clinician is the understanding of lung injury from the standpoint of interpretation of diagnosis, methods of diagnosis, and differential diagnosis with pneumonia, prevention of complications, and rational treatment tactics. The terms “pneumonitis” and “pneumonia” are not synonymous. In modern terminology, it is customary to use the term pneumonitis for a pathologic process in the alveoli without an infectious process in the vast majority of cases, and infectious forms of pulmonary inflammation are referred to as pneumonia. In this clinical case (and in similar situations), it is advisable to take into account the pathogenesis of changes in lung tissue after pulmonary contusion, leading to post-traumatic pneumonitis, which often requires additional specific therapy and rehabilitation for rapid recovery of lung function. Proper tactics in prescribing anti-inflammatory and antibacterial drugs are critical, as is treatment aimed at preventing complications, including prevention of fibrous changes in the lung.Conclusion. Given the relevance of this topic, it is currently advisable to introduce monitoring of CRP and procalcitonin levels, coagulogram, and gas composition of arterial blood, if necessary, in the patient management. It is advisable to use computed tomography to clarify the nature of the changes. The problem of follow-up and rehabilitation of patients with chest injuries and pulmonary contusion is relevant.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"99 13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90354371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Obstructive sleep apnea syndrome: nocturnal intermittent hypoxia and telomerase complex activity 阻塞性睡眠呼吸暂停综合征:夜间间歇性缺氧与端粒酶复合物活性
Pulmonologiya Pub Date : 2023-06-07 DOI: 10.18093/0869-0189-2023-4181
I. Madaeva, N. Kurashova, O. Berdina, E. V. Titova, N. Semenova, S. Kolesnikov, L. Kolesnikova
{"title":"Obstructive sleep apnea syndrome: nocturnal intermittent hypoxia and telomerase complex activity","authors":"I. Madaeva, N. Kurashova, O. Berdina, E. V. Titova, N. Semenova, S. Kolesnikov, L. Kolesnikova","doi":"10.18093/0869-0189-2023-4181","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-4181","url":null,"abstract":"Obstructive sleep apnea syndrome (OSAS) is a common pathology of the respiratory system characterized by upper airway blockage during sleep. The blockage is caused by intermittent throat collapse and thereby no lung ventilation with preserved respiratory efforts. Earlier we demonstrated that telomeres at the end of chromosomes shorten during intermittent nocturnal hypoxia and sleep fragmentation in OSA patients; the elimination of OSA triggers contributed to an increase in relative telomere length (RTL). The search for the relationship between telomeres and the telomerase complex activity with the sleep stages, as well as indicators of blood oxygen saturation in OSA, seems relevant.Aim. To evaluate the activity of the telomerase complex main components and to determine its relationship with the sleep phases and the level of desaturation in patients with OSA.Methods. The main group included 32 men (age 51.2 ± 3.1 years) with complaints of snoring, respiratory arrest during sleep, and increased daytime sleep. The control group consisted of 26 matched volunteers without clinical manifestations of OSA. Patients of both groups did not have any exacerbations of their chronic conditions at baseline. The study included questionnaires, polysomnography monitoring, analysis of the RLT by PCR, ELISA to determine activity of the telomerase complex components, and statistical analysis.Results. Differences were revealed in the functioning of telomeres and the TERT, TEP1. A positive relationship between the oxygen blood saturation, telomere length and TER1 activity was found in OSA patients.Conclusion. We have identified the decrease in RTL and the telomerase complex activity and proved their positive relationship with the oxygen saturation during intermittent nocturnal hypoxia in OSA patients.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"125 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86422634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mixed bacterial-viral lung infections in patients with cystic fibrosis 囊性纤维化患者的混合细菌-病毒肺部感染
Pulmonologiya Pub Date : 2023-05-23 DOI: 10.18093/0869-0189-2023-33-4-488-496
Е.М.Бурмистров, К.Г.Краснослободцев, Л.Р.Аветисян, Е.А.Сиянова, О.С.Медведева, Е.Г.Целикина, Н.Б.Поляков, А.И.Соловьев, А.Ю.Воронкова, Е.И.Кондратьева, С.А.Красовский, В.Г.Жуховицкий, Е.И.Бурцева, Н.А.Никитенко, М.Ю.Чернуха, E. Burmistrov, K. Krasnoslobodtsev, L. Avetisyan, E. Siyanova, O. Medvedeva, E. Tselikina, N. Polyakov, A. Solovyev, V. Zhukhovitsky, A. Voronkova, E. Kondratyeva, S. Krasovskiy, E. Burtseva, N. Nikitenko, M. Chernukha
{"title":"Mixed bacterial-viral lung infections in patients with cystic fibrosis","authors":"Е.М.Бурмистров, К.Г.Краснослободцев, Л.Р.Аветисян, Е.А.Сиянова, О.С.Медведева, Е.Г.Целикина, Н.Б.Поляков, А.И.Соловьев, А.Ю.Воронкова, Е.И.Кондратьева, С.А.Красовский, В.Г.Жуховицкий, Е.И.Бурцева, Н.А.Никитенко, М.Ю.Чернуха, E. Burmistrov, K. Krasnoslobodtsev, L. Avetisyan, E. Siyanova, O. Medvedeva, E. Tselikina, N. Polyakov, A. Solovyev, V. Zhukhovitsky, A. Voronkova, E. Kondratyeva, S. Krasovskiy, E. Burtseva, N. Nikitenko, M. Chernukha","doi":"10.18093/0869-0189-2023-33-4-488-496","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-4-488-496","url":null,"abstract":"The main cause of death in patients with cystic fibrosis (CF) is infectious process in the lungs, in particular, chronic lung infections caused by various pathogens, most often a combination of bacteria, fungi, or viruses. Data on mixed bacterial and viral-bacterial infections from domestic and foreign sources are fragmentary and sparse. The dominant associations of bacterial and viral pathogens in patients with cystic fibrosis have not been studied properly, and data on their epidemiological significance are lacking. The aim of this study was to assess the prevalence of bacterial and viral infections in patients with cystic fibrosis and to substantiate the need for the development of virological monitoring. Methods. Biomaterials from the respiratory tract of CF patients (409 children and 160 adults with CF) examined from 2006 to 2022 were used. The study was carried out using bacteriological methods, molecular genetic methods (RT-PCR) and MALDI-TOF mass-spectrometry. Results. Microflora of the respiratory tract was shown to be mixed in 2/3 patients with CF. The microflora of the lungs of children with CF is a dynamic community of microorganisms with high diversity and variability. In adult patients, associations of microorganisms are more common than in children, but the composition of associations is less diverse. We isolated about 40 species of bacteria from adult patients and more than 85 species from children in our sample. NFMO prevailed, including Burkholderia cepacia complex, Pseudomonas aeruginosa, Achromobacter xylosoxidans, Achromobacter ruhlandii, Stenotrophomonas maltophilia, and Staphylococcus aureus, Candida albicans, Aspergillus spp. Real-time PCR showed the presence of rhinovirus RNA in 10% of samples obtained from children and 12.9% from adults with cystic fibrosis. Conclusion. Our results indicate the need for continuous monitoring of the lung microflora in patients with CF, including testing for viruses.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"73 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83361441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Associations of the VDR gene with clinical manifestations and complications of cystic fibrosis VDR基因与囊性纤维化临床表现和并发症的关系
Pulmonologiya Pub Date : 2023-05-23 DOI: 10.18093/0869-0189-2023-33-4-443-453
Е.В.Лошкова, Е.И.Кондратьева, Е.К.Жекайте, Л.Я.Климов, Н.А.Ильенкова, Ю.Л.Мельяновская, А.Ю.Воронкова, E. Loshkova, E. Kondratyeva, E. Zhekaite, L. Klimov, N. Ilyenkova, Y. Melyanovskaya, A. Voronkova
{"title":"Associations of the VDR gene with clinical manifestations and complications of cystic fibrosis","authors":"Е.В.Лошкова, Е.И.Кондратьева, Е.К.Жекайте, Л.Я.Климов, Н.А.Ильенкова, Ю.Л.Мельяновская, А.Ю.Воронкова, E. Loshkova, E. Kondratyeva, E. Zhekaite, L. Klimov, N. Ilyenkova, Y. Melyanovskaya, A. Voronkova","doi":"10.18093/0869-0189-2023-33-4-443-453","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-4-443-453","url":null,"abstract":"Cystic fibrosis (CF) is the most common severe autosomal recessive disease in the Caucasoid population caused by mutations in the CF transmembrane regulator (CFTR) gene. However, the course of the disease may be modulated by genetic factors other than the CFTR gene and may be pleiotropically influenced by VDR (Vitamin D Receptor) gene. The aim of the study was to search for associations between genetic variants (c.1206T>C(A>G), c.152T>C, c.1174+283G>A) of VDR gene and clinically significant manifestations of CF, complications, and responses to therapy. Methods. Patients with CF (n = 283) and healthy children (n = 333), who formed the control group, were examined. Calcidiol levels were tested in all subjects. Polymorphic variants of VDR gene (c.1206T>C(A>G), c.152T>C, c.1174+283G>A) were tested by polymerase chain reaction and restriction fragment length polymorphism analysis. Results. It was found that carriers of the TT genotype of the c.152T>C FokI variant of VDR gene are 6.3 times more likely to develop meconium ileus (odds ratio – OR – 6.375; p = 0.011), 3.2 times more likely – respiratory failure (OR – 3.253; p = 0.079), 3.4 times more likely – chronic lung infection (CIL) caused by Pseudomonas aeruginosa (OR – 3.432; p = 0.026), and 4 times more likely – CIL caused by non-fermenting gram-negative bacteria (OR – 4.056; p = 0.009). Carriers of the CC genotype of the c.1206T>C(A>G) TaqI genetic variant use systemic corticosteroids more frequently (66% vs 7%) (OR – 0.034; p = 0.001). It was shown that the AA genotype of the BsmlI polymorphism (c.1174 + 283G>A) is 4 times more likely to be detected in children with CF-associated liver diseases (OR – 4.300; p = 0.051). Conclusion. The contribution of all studied genetic variants c.1206T>C(A>G) TaqI, c.152T>C FokI, BsmlI (c.1174+283G>A) of the VDR gene to the clinical manifestations, complications and response to therapy in CF is described.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"87 9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91122410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Congenital central hypoventilation syndrome (Ondine’s curse) 先天性中枢性低通气综合征(奥丁诅咒)
Pulmonologiya Pub Date : 2023-05-23 DOI: 10.18093/0869-0189-2023-33-4-575-579
Y. L. Mizernitskiy
{"title":"Congenital central hypoventilation syndrome (Ondine’s curse)","authors":"Y. L. Mizernitskiy","doi":"10.18093/0869-0189-2023-33-4-575-579","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-4-575-579","url":null,"abstract":"Pediatricians and neonatologists often deal with a variety of causes of respiratory failure. Most algorithms for the diagnosis and treatment of such conditions are well developed. However, the diagnosis of some rare causes of respiratory disorders is still challenging. The aim of this review is to present current literature data on a very rare autosomal dominant disorder – congenital central hypoventilation syndrome (Ondine’s curse). This syndrome is manifested by the absence of spontaneous breathing due to a congenital genetic defect, namely the expansion of the polyalanine tract in the PHOX2B gene on chromosome 4p12. Conclusion. Issues of pathogenesis, diagnosis, clinical variants, treatment, and prognosis of this disease are discussed.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"37 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135287772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bronchial asthma resistant to pharmacotherapy: why there is no response to the treatment? 支气管哮喘对药物治疗的抵抗:为什么治疗没有反应?
Pulmonologiya Pub Date : 2023-05-23 DOI: 10.18093/0869-0189-2023-33-4-568-574
T. O. Amirova, M. P. Fabrika, D. Soldatov, I. V. Kuneevskaya, A. Kameleva
{"title":"Bronchial asthma resistant to pharmacotherapy: why there is no response to the treatment?","authors":"T. O. Amirova, M. P. Fabrika, D. Soldatov, I. V. Kuneevskaya, A. Kameleva","doi":"10.18093/0869-0189-2023-33-4-568-574","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-4-568-574","url":null,"abstract":"Despite the obvious and simple diagnosis, in practice we meet patients who do not respond to standard therapy. Why does drug resistance occur? The answer to this question is not unambiguous and requires careful investigation in each clinical case. Here we present a clinical case of a patient with bronchial asthma, who had no bad habits and occupational hazards and received adequate drug therapy. However, her condition worsened from attack to attack. Whole exome sequencing by NGS allowed us to determine the spectrum of pathogenic mutations which contribute to the pathological process and drug resistance. Atopy due to dysfunction of filaggrin gene (FLG) triggered the disease and supported the pathological process that led to bronchial asthma. Furthermore, the patient’s body is not able to neutralize the bacterial flaggelin. The inflammatory response is reduced due to а Toll-like receptor 5 (TLR5) deficiency. This is one of the mechanisms underlying development of allergic bronchial asthma. In addition, the patient has reduced cross-presentation of antigens by dendritic cells, that is, a reduced immune response in the absence of infection, due to the complete loss of UNC93B1 gene function. Conclusion. Thus, an atopic reaction based on reduced adaptive immunity led to severe IgE allergy and torpid course of bronchial asthma. This conclusion supports atopic sensitization as the target for therapeutic action and the main core of pathological processes. For this purpose, we used a monoclonal antibody omalizumab that is capable of binding and reducing the amount of IgE. Targeted treatment of bronchial asthma made it possible to interrupt the symptoms and achieve complete remission.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"276 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76414783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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