Pulmonologiya最新文献

{"title":"Assessment of long-term clinical and functional changes in patients recovering from severe COVID-19-associated lung damage","authors":"G. Abdullaeva, S. Avdeev, E. Fominykh, G. Gordina, M. Mustafina","doi":"10.18093/0869-0189-2023-33-4-461-471","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-4-461-471","url":null,"abstract":"The problem of long COVID-19 (COronaVIrus Disease 2019) has been highly relevant for the healthcare system in the last three years. The persistence of respiratory symptoms, radiological and functional changes in COVID-19 patients brings new challenges to the entire medical community. The aim of the study is to explore long-term clinical and functional changes in patients with severe COVID-19-associated lung injury, including assessment of functional and radiological abnormalities of the respiratory system, as well as persistent clinical symptoms a year after the acute phase of the disease. Methods. The study included 45 patients who were examined 3, 6 and 12 months after COVID-19 with severe lung damage (more than 50% according to chest CT in the acute phase of the disease). Patients underwent multispiral computed tomography of the chest organs, a comprehensive study of respiratory function (spirography, body plethysmography and diffusion test); the clinical symptoms were assessed. Results. Chest CT scans showed gradual regression of pathological changes during the follow-up. However, radiographic changes of varying severity persisted after 12 months of follow-up in 51% of patients. A year later, restrictive disorders persisted in 20% of patients and the diffusion capacity of the lungs was reduced in 69% of patients. At the same time, a statistically significant difference in the DLСО level was observed between 3, 6 and 12 months. The severity of dyspnea decreased 1 year after hospitalization in 48% of patients. Conclusion. The obtained results demonstrate a gradual regression of both radiological and functional pathological changes during the 1st year. However, CT changes and deviations of the respiratory function persist in some patients, mainly in the form of a decrease in DLСО, which necessitates further monitoring of this group of patients.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"29 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89928026","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}

{"title":"Impact of early tocilizumab administration on the progression of respiratory failure in COVID-19 patients","authors":"Z. Merzhoeva, A. Yaroshetskiy, S. A. Savko, A. P. Krasnoshchekova, I. Mandel, N. Tsareva, N. Trushenko, G. Nuralieva, S. Avdeev","doi":"10.18093/0869-0189-2023-33-4-472-487","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-4-472-487","url":null,"abstract":"The optimal interval for initiating tocilizumab therapy in patients with COVID-19 (COronaVIrus Disease 2019) has not been determined. The aim of the study was to evaluate the effectiveness of prescribing tocilizumab depending on the duration of persistent hyperthermia > 38 °С in patients with SARS-CoV-2 (Severe Acute Respiratory Syndrome-related CoronaVirus 2) associated pneumonia who received tocilizumab according to the Interim Guidelines of the Ministry of Health of the Russian Federation (version at the time of inclusion in the study). Methods. A retrospective cohort study was conducted in hospitalized patients (n = 163) with SARS-CoV-2-associated pneumonia from May 2020 to May 2021. Patients were retrospectively divided into 2 groups depending on the time of tocilizumab administration: ≤ 7 days (n = 61) or ≥ 8 days (n = 102) from the disease onset. Results. Patients who received tocilizumab in the first 7 days had the lower need for CPAP (Continuous Positive Airway Pressure) therapy on day 3 after tocilizumab therapy (HR (Hazard Ratio) – 0.129 (0.039 – 0.430); p = 0.001), a higher probability of a decrease in the volume of lung lesions on computed tomography > 25% a week after the use of tocilizumab (HR – 1.065 (1.036 – 1.093); p = 0.001), the lower probability of hemoglobin oxygen saturation below 92% on day 3 (HR – 0.807 (0.750 – 0.869); p = 0.001), and day 7 (HR – 0.825 (0.772 – 0.883); p = 0.001) after tocilizumab therapy. If CPAP therapy was required on day 3 after administration of tocilizumab, each day of delay in prescribing the drug increased the risk of an adverse outcome 18-fold (HR – 18.24 (5.328 – 62.438); p = 0.001). The duration of hospitalization was significantly lower in the early group than in the late group (10 (8.5 – 15) vs 13.5 (10 – 18) days, respectively; p = 0.02). The mortality was similar (5 (8.2%) vs 6 (5.9%) patients, respectively; p = 0.748). Conclusion. The administration of tocilizumab in the first seven days from the onset of the disease in patients with COVID-19 who developed systemic inflammation and lung damage may prevent the need for escalation of respiratory support and accelerate recovery compared with the later tocilizumab administration.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90820616","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}

{"title":"Birt - Hogg - Dube disorder: case reports","authors":"S. Avdeev, N. Trushenko, I. Avdeev, A. M. Nikolenko, G. V. Neklyudovah","doi":"10.18093/0869-0189-2023-33-2-266-272","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-2-266-272","url":null,"abstract":"Birt - Hogg - Dubd (BHD) disorder is a rare inherited autosomal dominant disorder caused by germline mutations in the tumor suppressor gene FLCN, which encodes the protein folliculin. BHD disorder is characterized by benign skin hamartomas, kidney cancer, pulmonary cysts, and spontaneous pneumothorax. Currently, more than 600 cases of this disease have been described worldwide. Diagnosis of BHD disorder is based on clinical manifestations, family history, and genetic testing. We describe two patients (43 and 51 years old) who presented with a history of longstanding dyspnea and spontaneous pneumothorax. Based on the radiological characteristics and skin lesions, the patients were referred for genetic testing to confirm the diagnosis of BHD disorder.Aim. To study the current management of adult patients with BCD disorder. Timely diagnosis of BHD disorder has important preventive value because patients with this disease are at much higher risk for kidney cancer.Conclusion. The presented clinical cases demonstrate typical manifestations of BCD disorder with predominant involvement of the lungs and skin. The final diagnosis is confirmed by genetic testing of the coding sequence of the FLCN gene by direct automated sequencing. To date, there are no specific therapies for BCD disorder and treatment of the respiratory manifestations is limited to prevention and treatment of pneumothorax.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"77 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74310218","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}

{"title":"Hypercapnic respiratory failure in a patient with nemaline myopathy","authors":"A. Chuchalin, T. O. Amirova, O. Brodskaya, A. Baranova, I. Butyugina","doi":"10.18093/0869-0189-2023-33-2-279-286","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-2-279-286","url":null,"abstract":"Neuromuscular diseases are often associated with a range of respiratory complications, presenting both diagnostic and therapeutic challenges for pulmonologists.The aim of this article is to discuss search of genetic causes and means of respiratory support in case of a man who was diagnosed with NM after 50 years of age. The selected diagnostic and treatment algorithms allowed for successful control of the patient’s condition for 4 years. Whole exome sequencing identified nemaline myopathy (NM), a rare genetically-determined skeletal muscle pathology. Respiratory failure syndrome is considered a life-threatening condition in NM. The severity and characteristics of the clinical course vary depending on the specific mutations. The typical course of NM is characterized by generalized, slowly progressive myopathy, and the manifestation of respiratory failure may be triggered by comorbidities.Conclusion. The course and management of respiratory failure in NM are poorly understood. Whole exome sequencing made it possible to establish genetic diagnosis, evaluate prognosis and the contribution of comorbidities to the patient’s condition. Noninvasive ventilation compensated the respiratory failure and resolved the symptoms of right ventricular heart failure.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90969888","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}

{"title":"Clinical case of a patient with Prader - Willi syndrome","authors":"G. Nuralieva, K. Y. Kryuchkova, V. Anokhina, A. A. Bolotskaya, M. M. Kozhevnikova, I. Avdeev, G. Nekludova, V. Gaynitdinova, M. R. Khaziakhmetova, S. Avdeev","doi":"10.18093/0869-0189-2023-33-2-273-278","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-2-273-278","url":null,"abstract":"Prader — Willi syndrome (PWS) is a rate multisystem disease caused by a developmental disorder of the nervous system. The syndrome is associated with an imprinting defect, i.e. lack of expression of paternal genes on chromosome 15 q11.2q13.1. This genetic defect leads to cognitive and behavioral disorders; hypothalamic dysfunction; endocrine, cardiovascular, musculoskeletal, respiratory, and other disorders. PWS is the most frequent cause of hereditary obesity. In turn, the obesity causes the obesity-hypoventilation syndrome and respiratory failure.The aim of this article was to describe a clinical case of 28-year-old female who presented with acute hypercapnic respiratory failure.Conclusion. The patient was treated with respiratory support (non-invasive ventilation). The timely diagnosis and treatment of respiratory failure is important for the outcome as it can improve the patient’s quality of life and the life expectancy.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"60 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84778532","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}

{"title":"Primary ciliary dyskinesia in a child with type II Simpson -Golabi - Bemel syndrome due to OFD1 gene mutation","authors":"V. Strelnikova, A. Tsverava, D. Ovsyannikov, E. Zhekaite, O. B. Kondakova, P. V. Berejansky, K. Savostyanov, V. V. Gorev, M. Airapetyan, O. Topilin","doi":"10.18093/0869-0189-2023-33-2-259-265","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-2-259-265","url":null,"abstract":"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.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"48 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80610585","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}

{"title":"Ciliated cell cultures for diagnosis of primary ciliary dyskinesia","authors":"A. Demchenko, S. Smirnikhina","doi":"10.18093/0869-0189-2023-33-2-210-215","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-2-210-215","url":null,"abstract":"Primary ciliary dyskinesia (PCD) is a hereditary autosomal recessive disease that results in a defect in the ultrastructure of epithelial cilia. To date, there is no single diagnostic test for PCD, so the diagnosis is based on the results of multiple tests, such as DNA diagnostics, assessment of nasal nitric oxide levels, ciliary beat frequency (CBF) in nasal biopsy, ciliary ultrastructure, etc. Diagnosis of PCD can be difficult due to secondary damage to the airway epithelium, leading to undiagnosed or false positive cases.The aim of this work was to review studies on the cultivation of human nasal epithelial cells and subsequent differentiation into ciliated cells for the diagnosis of PCD.Conclusion. In vitro ciliogenesis helps to make a correct diagnosis of PCD while avoiding false positives. There are three different methods of ciliogenesis in vitro: the suspension culture method, the ALI culture method, and the organoid culture method. Each method of ciliogenesis has its own advantages and disadvantages. The ALI culture method is the most widely used. It produces a sufficient number of ciliated cells for diagnosis, which can be maintained in culture for a long time. The obtained cultures of nasal epithelial ciliated cells allow to analyze the ultrastructure of cilia, to evaluate CBF and localization of ciliary proteins, which helps in the diagnosis of PCD.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"17 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78943283","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}

{"title":"A rare variant of primary ciliary dyskinesia in combination with hereditary hemorrhagic telangiectasia type 1: a case from practice","authors":"P. A. Shatokha, A. Novak, A. R. Shudueva, Y. Mizernitskiy, O. Groznova","doi":"10.18093/0869-0189-2023-33-2-251-258","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-2-251-258","url":null,"abstract":"Primary ciliary dyskinesia (PCD) is a rare genetic disease belonging to the group of ciliopathies. The disease develops because a defect in the ultrastructure of the epithelial cilia in the respiratory tract and similar structures (sperm flagella, villi of the fallopian tubes, ventricular ependyma, etc.) disturbs their motor function. Currently, various clinical and genetic variants of the disease are distinguished, increasing the effectiveness of dynamic examination and treatment.Aim. In this article, we describe a patient with a rare variant of PCD that we identified in combination with a mutation in the ENG gene responsible for the development of hereditary hemorrhagic telangiectasia type 1 (HHT-1). HHT-1 is a rare hereditary disease that manifests as various vascular dysplasias, including arteriovenous malformations (AVM) in the lungs, which can significantly worsen the course of the disease and be a predictor of an unfavorable outcome.Conclusion. The presented case demonstrates a combination of two rare genetic diseases in a child. The uniqueness of the case also lies in the fact that the identified rare mutation in the DRC1 gene responsible for the development of PCD is not associated with a loss of motility of the cilia of the ciliated epithelium, which makes the testing and the correct diagnosis even more difficult.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"91 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79651680","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}

{"title":"Description of the clinical picture and assessment of functional activity of the CFTR channel in a patient with a complex allele [S466X; R1070Q]","authors":"M. Krasnova, Y. Melianovskaya, S. Krasovskiy, N. Bulatenko, A. Efremova, T. Bukharova, D. Goldshtein","doi":"10.18093/0869-0189-2023-33-2-233-242","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-2-233-242","url":null,"abstract":"The presence of pathogenic variants in the CFTR gene causes cystic fibrosis (CF) through various molecular mechanisms that affect the formation and functional activity of the CFTR chloride channel. An important factor affecting the phenotypic manifestations of CF and the effectiveness of targeted therapy is the presence of complex alleles with > 2 consecutive mutations per 1 allele, or in the cis position. The influence of complex alleles on the manifestations of CF has not been sufficiently studied globally due to the small number of studies.The aim of the study was to investigate the influence of the complex allele [S466X; R1070Q] on the phenotypic manifestations of CF and the effectiveness of targeted therapy in a model of intestinal organoids from a patient with [S466X; R1070Q]/CFTRdele2,3 genotype.Methods. We used medical history data, intestinal current measurement, intestinal organoid method, and forskolin test.Results. The progressive nature of the disease with a clear degradation of lung function was established. The ICM method showed absent chloride channel function. The tests on the culture of organoids obtained from the intestinal tissue indicated a complete loss of the chloride channel function. In addition, the complex allele [S466X; R1070Q] was insensitive to all targeted drugs tested.Conclusion. The complex allele [S466X; R1070Q] causes a complete loss of the functional CFTR protein and is not sensitive to any of the approved targeted drugs.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88053489","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}

{"title":"Randu - Osler - Weber disease (or hereditary hemorrhagic teleangectasia) with respiratory involvement","authors":"Y. Mizernitskiy, P. A. Shatokha, L. V. Sokolova","doi":"10.18093/0869-0189-2023-33-2-216-224","DOIUrl":"https://doi.org/10.18093/0869-0189-2023-33-2-216-224","url":null,"abstract":"Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominantly inherited disease characterized by various vascular defects, including nosebleeds, dilation of blood vessels (telangiectasias), and arteriovenous malformations (AVMs) in the lungs and other internal organs. Pulmonary AVMs are observed in 15 - 50% of patients with HHT. The disease manifests in childhood, with the severity of clinical manifestations increasing throughout the patient’s life. The eponymous name of Randu - Osler - Weber disease comes from the surnames of the physicians who first described it in the mid-19th century. Despite some progress in understanding its etiology and pathogenesis, treatment tactics remains incomplete.The aim of this review is to systematize information on the etiology, diagnosis, and treatment of HHT. This review presents the current status of the problem, lists the main diagnostic tests and the principles of pharmacological and surgical treatment.Conclusion. The polyorganic lesions in HHT require an interdisciplinary approach to the management of these patients both in childhood and in adulthood. With the discovery of the genetic basis of the disease, pathogenetic therapy with humanized monoclonal antibodies seems promising. However, this therapy requires further research.","PeriodicalId":37383,"journal":{"name":"Pulmonologiya","volume":"58 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78300284","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}