Search

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.

Obesity is a rapidly growing social problem that affects more than 650 million people worldwide. It has been proven that obesity is associated with diabetes mellitus, dyslipidemia, hypertension, cardiovascular diseases, obstructive sleep apnea (OSA) syndrome. However, one of the most serious and least reported complications is obesity-hypoventilation syndrome, characterized by obesity (body mass index ≥ 30 kg/m2), hypercapnia (PaCO2 > 45 mmHg), as well as respiratory disorders during sleep (AHI > 5h). The prevalence of OHS is estimated at 10–20% in obese patients. The basis of the pathogenesis of OHS is low compliance of the chest and lungs due to excessive weight load. An effective method of treatment is to change the life-style in order to reduce body weight, however, there are frequent cases of acute respiratory failure (ARF), for the correction of which respiratory support is necessary, in particular with the help of non-invasive ventilation (NVL). For this purpose, an artificial ventilation device is used with various modes of operation: continuous positive airway pressure (CPAP), bilevel positive airway pressure (BiPAP), average volume-assured pressure support (AVAPS). At the same time, obstructive phenomena are not attributed to the main causes of OHS, which is why CPAP is not conceptually a method of treating OHS, however, it was found that more than 90% of patients with OHS have concomitant OSA. In such patients, most of the pathophysiological links can be safely corrected using CPAP therapy, since with this method the stability of the upper respiratory tract lumen is achieved. BiPAP and AVAPS regimens affect the pathogenetic mechanisms of OHS, which is why they demonstrate high effectiveness both in the short term (ARF) and in the long term (long-term treatment with respiratory support).

Idiopathic pulmonary fibrosis (IPF) is a specific form of chronic fibrotic interstitial pneumonia with a progressive course and poor prognosis. The prevalence of IPF in the Russian Federation is about 8 – 12 cases per 100,000 population. The basic treatment of IPF is antifibrotic agents.Methodology. The target audience of these clinical recommendations are therapists, general practitioners, pulmonologists, pathologists, radiologists, and medical rehabilitation doctors. Each thesis-recommendation about diagnostic and therapeutic procedures has been scored according to the scale of classes of recommendations from 1 to 5 and A, B, C scale of the levels of evidence. Clinical recommendations also contain comments and explanations to the theses, algorithms for the diagnosis and treatment of idiopathic pulmonary fibrosis, and reference materials.Conclusion. The presented clinical guidelines cover current information about the etiology and pathogenesis, clinical manifestations, diagnosis, treatment, and prevention of idiopathic pulmonary fibrosis. These guidelines were approved by the Scientific and Practical Council of the Ministry of Health of the Russian Federation in 2021.

Exacerbations of COPD worsen health status, increase the frequency of hospitalizations, the likelihood of disease progression, and the risk of adverse outcomes. One of the main goals of the treatment of stable COPD today is to reduce the frequency of exacerbations of the disease. Thus, the expansion of suitable therapeutic options is extremely relevant for clinical practice. Use of mucolytic drugs with antioxidant and anti-inflammatory effects in COPD is justified by the pathogenetic mechanisms. These drugs are able to reduce the frequency of exacerbations, among other positive effects.Aim. This article describes additional possibilities of pharmacotherapy using the mucoactive drug erdosteine as maintenance therapy for COPD aimed at preventing exacerbations of this disease.Conclusion. The use of erdosteine in patients with stable COPD helps reduce the frequency and duration of exacerbations of the disease, primarily in the patients with stage II according to GOLD.

Physical intolerance is an important sign of many chronic respiratory diseases. The most useful tool for clinical evaluation of physical status is six-minute walking test (6-MWT), but sometimes its technical requirements are not feasible. By this reason, a search for alternative field tests have being going on in the last years, but the diagnostic yield of the new exercise tests for most chronic bronchopulmonary diseases is not clear.The aim of this study was to compare results of 6-MWT and 30-seconds sit-to-stand (30-s-STS) test in patients with fibrosing interstitial lung diseases (ILDs) and restrictive abnormalities of lung function.Methods. This was a cross-sectional non-randomized open comparative study. Patients with ILDs were asked to perform 6-MWT and 30-s-STS test with 30 min interval. We also analyzed medical history, lung function, and dyspnea assessed with Medical Research Council (MRC).Results. The study included 25 ILD patients (11 males; 14 women); 75% of patients had restrictive lung function disorders. The mean distance walked in 6-MWT (6MD) was 380.4 ± 111.9 m (M ± SD), 14 (56%) patients desaturated during the test. The mean number of repetitions in 30-s-STS test was 12 (10 – 13) during 30 s; 5 (20%) patients desaturated during the test. 6MD showed moderate correlation with the number of repetitions in 30-s-STS test and to dyspnea on exertion. The number of repetitions in the 30-s-STS test was not associated with any clinical or functional parameters. To the end of exercise, the number of patients who desaturated increased, the desaturation was greater, and post-exercise SpO2 was lower in 6-MWT compared to 30-s-STS test.Conclusion. 30-s-STS test was less informative in terms of reduced physical tolerance and desaturation on exertion compared to 6-MWT in patients with fibrosing ILDs and restrictive abnormalities of lung function.

Aim. To study the relationship between clinical, radiologic, and morphological features in nonfibrotic and fibrotic hypersensitivity pneumonitis.Materials and methods. Clinical symptoms, data of high-resolution computed tomography, parameters of external respiration, and histological changes in the lung tissue obtained via open and transbronchial biopsies were studied retrospectively in 175 patients with hypersensitivity pneumonitis (HP). Statistical analysis was performed using the Statistica software.Results. We found that the clinical error rate in the diagnosis of HP was 84.5%, among pathologists – 92%. Among all the variants of HP, the most common was fibrotic HP. It was shown that non-necrotizing granulomas and giant cells in the cavities of the alveoli, microcells, and interalveolar septa were more typical of nonfibrotic HP. In fibrotic HP, peribronchial fibrosis, smooth muscle metaplasia in fibrotic areas, and the presence of fibroblastic foci in the walls of terminal bronchioles are signs of differential diagnosis with usual interstitial pneumonia. The classical triad of histological signs was observed in 19.2% of patients with nonfibrotic HP and in 5.6% of patients with fibrotic HP.Conclusion. Diagnosis of HP is complex and should be based on a multidisciplinary approach involving clinicians (pulmonologists), radiologists, functional diagnostics specialists, and pathologists. In this case, it is imperative to take into account and identify factors causing development of the disease, as well as the age of patients.

Therapeutical options for the treatment of chronic obstructive pulmonary disease (COPD) have significantly expanded in recent years, primarily due to market entry of new combination drugs. One of the commonly used therapeutic options for patients with frequent exacerbations of COPD is a triple combination, including LABA, LAMA and ICS, however, prescribing such therapy, doctors often face a decrease in treatment adherence, which ultimately leads to lack of effectiveness, as well as with an increased risk of adverse events. This article presents the current information on the clinical efficacy and safety profile of a fixed triple combination of beclomethasone dipropionate, glycopyrronium bromide and formoterol fumarate, available as extrafine aerosol inhaler, allows to optimize inhalation treatment for patients with frequent exacerbations of COPD.

In a retrospective study, we evaluated factors associated with the early development of septic shock in patients with severe COVID-19.We collected medical records of the intensive care unit patients submitted by the local COVID-19 hospitals across Russia to the Federal Center for the Critical Care at the Sechenov First Moscow State Medical University (Sechenov University). Septic shock in crticially ill patients requiring mechanical ventilation was defined as a need in vasopressors to maintain blood pressure.We studied 1078 patients with severe COVID-19 who were admitted to the intensive care units for respiratory support. There were 611 males and 467 females. The mean age was 61.013.7 years. Five hundred twenty five medical records (48.7%) were received from the Moscow hospitals, 159 (14.7%) from the Moscow region, and 394 (36.5%) from the hospitals located in 58 regions of the Russian Federation. In 613 (56.9%) patients, diagnosis of SARS-CoV-2 infection was confirmed by PCR, and in the other cases it was established on the basis of the clinical picture and the results of the chest CT scan. Septic shock developed in 214 (19.9%) of 1078 patients. In the logistic regression model, the risk of septic shock in patients older than 50 years was higher than in patients of a younger age (OR 2.34; 95% CI 1.533.67; p0.0001). In patients with more severe SARS-CoV-2 infection, there was an increase in the prevalence of cardiovascular diseases, including coronary heart disease and atrial fibrillation, type 2 diabetes and malignant tumors. The risk of septic shock in patients with three or more concomitant diseases was higher than in patients without any concomitant chronic diseases (OR 1.76; 95% CI 1.762.70).The risk of septic shock in patients with acute respiratory distress syndrome induced by SARS-CoV-2 is higher in patients older than 50 years with concomitant diseases, although a severe course of the disease is also possible in younger patients without any concomitant disorders.Цель. Анализ факторов, ассоциированных с ранним развитием септического шока у больных с тяжелым течением COVID-19. Материалы и методы. В исследование включены данные всех пациентов, проконсультированных до 1 мая 2020 г. на базе Федерального дистанционного консультативного центра анестезиологии и реаниматологии на базе ФГАОУ ВО Первый МГМУ им. И.М. Сеченова (Сеченовский Университет). Критерием септического шока считали снижение артериального давления, требовавшее введения вазопрессорных средств. Результаты. В исследование включены 1078 пациентов, 611 (56,7%) мужчин и 467 (43,3%) женщин. Средний возраст составил 61,013,7 года; 525 (48,7%) заявок на консультацию получены из стационаров Москвы, 159 (14,7%) Московской области, 394 (36,5%) лечебных учреждений в 58 регионах Российской Федерации. У 613 (56,9%) больных диагноз SARS-CoV-2-инфекции подтвержден с помощью полимеразной цепной реакции, а в остальных случаях установлен на основании клинической картины и результатов компьютерной томографии органов грудной клетки. Развитие септического шока отмечено у 214 (19,9%) из 1078 больных. В логистической регрессионной модели риск его развития у пациентов старше 50 лет выше, чем у больных более молодого возраста (отношение шансов 2,34; 95% доверительный интервал 1,533,67; р0,0001). У пациентов с более тяжелым течением SARS-CoV-2 отмечалось увеличение частоты сердечно-сосудистых заболеваний в целом, ишемической болезни сердца, фибрилляции предсердий, сахарного диабета 2-го типа, частота злокачественных опухолей выше. Риск развития септического шока у пациентов с тремя и более сопутствующими заболеваниями оказался выше, чем у пациентов без сопутствующих болезней (отношение шансов 1,76; 95% доверительный интервал 1,762,70). Заключение. Риск развития септического шока у пациентов с острым респираторным дистресс-синдромом, вызванным SARS-CoV-2, выше у пациентов старше 50 лет, страдающих несколькими сопутствующими заболеваниями, хотя тяжелое течение заболевания возможно и у более молодых людей без какой-либо сопутствующей патологии.

Acute Respiratory failure (ARF) is the leading cause of death in patients with severe COVID-19, who have been admitted to the hospital. Tradition - ally, it has been believed that with severe pneumonia complicated by ARF, survival can improve with the use of early intubation and artificial lung ventilation (ALV) in patients. However, according to recently published studies, COVID-19 has a very high death rate among patients receiving ALV. In case of early (pre-life support) start of oxygen therapy and respiratory support in patients with COVID-19 the need for transfer to the intensive care unit, tracheal intubation and ALV decreases, and therefore the prognosis improves. This article presents practical guidelines for oxygen therapy and respiratory support at the pre-life support in patients with COVID-19 infection complicated by ARF.

Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease that combines various clinical manifestations and pathophysiological mechanisms. It underlies the separation of patients with COPD by phenotypes, endotypes and a personalized therapy of this disease. The implementation of this approach is possible only with the use of appropriate biomarkers. One of the most important biomarkers of COPD is eosinophilia of blood and/or sputum, which is considered as a predictor of frequent exacerbations and the effectiveness of inhaled glucocorticosteroids in patients with COPD. The literature discusses the impact of eosinophilic inflammation on the prognosis, clinical and functional parameters in COPD, and the role of the targeted therapy in the treatment of eosinophilic COPD.Хроническая обструктивная болезнь легких (ХОБЛ) - гетерогенное заболевание, сочетающее в себе различные клинические проявления и патофизиологические механизмы, что лежит в основе разделения больных ХОБЛ по фенотипам, эндотипам и персонифицированной терапии этого заболевания. Реализация данного подхода возможна только при использовании соответствующих биомаркеров. Одним из наиболее важных биомаркеров при ХОБЛ является эозинофилия крови и/или мокроты, рассматриваемая как предиктор частых обострений и эффективности ингаляционных глюкокортикостероидов у пациентов с ХОБЛ. В литературе обсуждаются вопросы влияния эозинофильного воспаления на прогноз, клинические и функциональные показатели при ХОБЛ, а также роли таргетной терапии в лечении эозинофильной ХОБЛ.

Currently, combinations of long-acting beta2-agonists and long-acting anticholinergics are considered as the basic therapy for majority of patients with chronic obstructive pulmonary disease (COPD). These combinations have different pharmacological characteristics and delivery devices that provides different clinical effects and new opportunities for personalized treatment of COPD. Aclidinium/formoterol fixed combination differs from other dual bronchodilators by twice-daily dosing regimen, good safety profile and a specific delivery system. Recent information on clinical efficacy and safety of aclidinium/formoterol combination in COPD patients is given in this article.

Idiopathic pulmonary fibrosis (IPF) is the most common form of idiopathic interstitial pneumonia that is characterized by a steadily progressive course and poor prognosis. The worsening pulmonary fibrosis resulting in honeycomb lungs accounts for the deterioration of clinical symptoms and functional status in patients with IPF. Today, the drugs with anti-fibrotic properties are recommend as a drug therapy for IPF. The article provides information on the efficacy and safety of this therapy as well as practical guidelines on the management of patients with IPF receiving such therapy.

Aim. To investigate verbal dyspnea characteristics in patients with bronchial asthma (BA) and hyperventilation syndrome (HVS). Material and methods. The trial covered 52 patients with BA, 10 patients with BA combination with HVS and 18 patients with HVS. Verbal dyspnea characteristics were studied with P.M. Simon questionnaire. The examination of the patients was made using scale HADS, Naimigen questionnaire, bodyplethysmography, bronchodilation test, capnography with spontaneous hyperventilation test, analysis of arterial blood gas composition. Results. Most commonly BA patients characterized dyspnea with such words as " I am breathless" (n=8, 33.3%), "I breathe with effort" (n=6, 25%) and "I feel suffocation" (n = 6, 25%). HVS patients characterized their dyspnea most often as "air shortage" (n = 14, 77.8%), "I can’t take a deep breath" (n = 10, 55.6%), "breathing needs concentration" (n = 6, 33.3%) and "I have to grasp air with mouth" (n = 5, 17.9%). The latter description correlated with capnometric markers of HVS and responses to Naimigen questionnaire. The description "I feel suffocation" directly correlated with BA stage by GINA and bronchial obstruction severity. Conclusion. Verbal dyspnea characteristics differ in BA and HVS patients and this can be used in differential diagnosis of these conditions.