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The Russian Archives of Internal Medicine

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Vol 14, No 6 (2024)
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REVIEW ARTICLE

405-418 310
Abstract

   Given their ubiquitous progressive nature and unfavorable prognosis, interstitial lung diseases (ILD), especially such common variants as idiopathic pulmonary fibrosis (IPF) and hypersensitivity pneumonitis (HP), rightly attract considerable attention from clinicians and scientists worldwide. In recent years, the need for an in-depth study of the clinical and pathogenetic features of ILD, improvement of existing approaches and development of effective personalized approaches to the management of this category of patients, based on the most promising targets of action, among which genetic and epigenetic variants are increasingly being considered, has become increasingly important. The authors conducted a non-systematic, descriptive review of the literature aimed at systematizing data on the main known genetic and epigenetic mechanisms involved in the pathogenesis and formation of specific clinical manifestations of IPF and HP. Mutations in genes encoding telomerase, synthesis of fibrogenesis factors, polymorphisms of mucin genes, lung surfactant are highlighted separately, and the main epigenetic changes involved in fibrogenesis processes are highlighted separately. Prospects of genetic and epigenetic studies for new pharmacological approaches and monitoring the effect of already available treatment methods are analyzed. The search for literature sources was conducted in the Scopus, Web of Science, MedLine, The Cochrane Library, EMBASE, Global Health, CyberLeninka, and RSCI databases by the keywords “interstitial lung diseases”, “idiopathic pulmonary fibrosis”, “hypersensitivity pneumonitis”, “familial pulmonary fibrosis”, “genetic”, “epigenetic”, “precision diagnostics”, “therapy” with a search depth of 20 years.

419-434 361
Abstract

   Early accurate detection of skin cancer is a growing global problem of health’s services throughout the world. Malignant skin formation can be suspected by using an anamnesis, visual inspection of the skin, and diffrent types of investigations in primary care settings. The dermatoscopic examination is necessary for exclusion or confirmation skin cancer, which is performed by a dermatovenerologist. The patient is referred futher to an oncologist in case the cancer cannot be excluded. Well-organized identification of patients with suspected skin cancer is accociated with favorable prognosis. However, in order to reduce the rates of high neglect for malignant skin tumors and optimize the routing of patients after visiting a primary care phisician, it is worth to pay attention to the following points: annual medical check-up examinations, especially among people of age is over than 40 years; a complete physical examination, including thorough history and full body skin examination by general practition as part of a clinical examination in a primary care settings; the use of mandatory dermoscopic examination by a dermatovenerologist for early diagnosis of skin cancer, and, if possible, dynamic skin mapping with artificial intelligence analysis; increasing the professional and communicative skills, especially needed in managing newly diagnosed skin cancer, since psychosocial factors influence the patient’s attitude towards his/her own health; maintaining continuity between general practitioners and dermatovenerologists to improve the quality of medical care; creation of “Healthy Skin” schools in clinics to increase the medical literacy of the population concerning the education regarding the danger of skin cancer, training in skin self-examination skills; using e-health technologies as an additional source of information.

435-441 406
Abstract

   A review of the literature is presented, which describes a unique mobile non-invasive system for measuring the total volume of fluid in the lungs ReDS, a study of its effectiveness on animals and volunteers, as well as experience of use in clinical practice. An analysis of domestic and foreign literary sources of the portals PubMed, Web of Science, Nature, published in the period from 2012–2024, was carried out. Every year around the world there is a tendency to increase the number of patients with chronic heart failure. The key problem of the diagnostic search remains the early detection of decompensation of chronic heart failure. One of the reliable and early markers of impending acute decompensation of chronic heart failure is monitoring of the fluid volume in the lungs. Determining the fluid volume indicator can serve as a criterion for adjusting the therapy, which, in turn, should affect the frequency of re-hospitalizations. Thus, vital for the further management of patients with acute decompensation of chronic heart failure is the control of volume, as well as the identification and quantification of the degree of congestion. Fluid volume assessment is a key factor in the management of patients with chronic heart failure in inpatient and outpatient settings. ReDS monitoring significantly reduces the likelihood of readmission to hospital with chronic heart failure within 3 months compared with patients not tested on the ReDS system.

442-456 630
Abstract

   Hemochromatosis is a life-threatening condition if left untreated, that is caused by excess iron in the body. It can be primary (hereditary) hemochromatosis, resulting from genes mutations, and secondary (acquired) as a result of excessive intake of iron from food or drugs, liver diseases or repeated blood transfusions. Deposition of excess iron in parenchymal tissues leads to cellular dysfunction and clinical manifestations of the disease. The liver, pancreas, joints, skin, pituitary gland and heart are most often affected. Cardiac hemochromatosis is an important and potentially preventable cause of heart failure. Initially, diastolic dysfunction and arrhythmias develop, at later stages a picture of dilated cardiomyopathy can appear. Signs of heart damage in hemochromatosis can be detected using complex 2D and Doppler echocardiography, cardiac MRI with T2* relaxation time measurement and other diagnostic methods. Genetic testing is the gold standard for diagnosing hemochromatosis and should be performed after secondary causes of iron overload have been excluded. The basis of therapy is therapeutic phlebotomy and iron chelation. Median survival is less than a year in untreated patients with severe heart failure caused by hemochromatosis. However, with early and aggressive treatment, survival approaches that of patients with heart failure of other etiologies.

ORIGINAL ARTICLES

457-466 324
Abstract

   The aim of the study was to evaluate the possibility of achieving control of severe bronchial asthma (BA) using genetically engineered biological therapy with Dupilumab.

   Materials and methods. The study included 32 patients with severe bronchial asthma (8 (25 %) men, mean age 58 [28; 65]) years, 24 (75 %) women, mean age 50 [26; 62] years) who received additional therapy with Dupilumab for 12 months. The endpoint of the study was 12 months of therapy with Dupilumab. The allergic phenotype of the disease was recorded in 19 (60 %) patients, a quarter of patients had non-allergic phenotype, and 5 (15 %) patients had mixed BA.

   Results. Before the introduction of genetically engineered biological therapy, patients had an extremely high daily need for emergency medications — about 9 times a day, 4 or more exacerbations were recorded during the previous 12 months before inclusion in the study. After 12 months of additional therapy with Dupilumab, a significant reduction in symptoms was noted — 22 (70 %) patients did not have asthma attacks at all. In 6 patients (19 %), 1 exacerbation of bronchial asthma developed during the next 12 months, which the patients coped with independently using nebulizer therapy at home. Before the start of genetically engineered biological therapy, 10 people (31 %) received systemic glucocorticosteroids (OCS) at a dose of 10 to 5 mg of prednisolone. After 4 months, 22 (70 %) patients receiving hormonal drugs managed to stop them. After 12 months, no patients took OCS.

   Conclusion. During 12 months of additional therapy with Dupilumab, patients managed to completely stop taking OCS. Exacerbations requiring hospitalization were absent in all patients included in the study. Complete control was achieved by 22 (69 %) subjects, partial control was achieved by 10 (31 %). There was no need for short-acting beta-agonists (SABA) in 27 (85 %) subjects.

ANALYSIS OF CLINICAL CASES

467-472 273
Abstract

   The article describes a clinical observation of takotsubo syndrome with the development of cardiogenic shock in a 77-year-old patient with persistent atrial fibrillation after planned electrical impulse therapy to restore sinus rhythm. The diagnosis of ST was confirmed based on laboratory and instrumental data: changes in the electrocardiogram (ST segment elevation in leads V3-4 by 2-3 mm), increased troponin levels (456.8 ng/l), identified left ventricular contractility disorders according to echocardiography (akinesis of all apical segments, anterior, anterior and inferior septal segments at the median level, hypokinesis of the remaining segments at the median level) followed by complete restoration of left ventricular contractility over time, coronary angiography results (no significant stenosis/thrombosis detected) and magnetic resonance imaging data of the heart with gadolinium (no signs of myocarditis, cicatricial changes in the myocardium). The presented clinical case once again emphasizes the importance of awareness of specialists about the possible risk of developing takotsubo syndrome after electrical impulse therapy, as this will allow timely diagnosis and initiation of appropriate treatment. Patients with such risk factors for the development of takotsubo syndrome as a history of mental or neurological diseases, bronchial asthma, chronic obstructive pulmonary disease, diffuse nodular goiter, hypo-/hyperthyroidism, after cardioversion, apparently require more careful and long-term monitoring. Such tactics will probably allow timely diagnosis of this complication to prevent serious consequences, but further study of this issue is required.

473-478 285
Abstract

   The article presents a clinical observation of a 48-year-old patient who applied to the Department of pulmonology in connection with accidentally detected focal formations in the lungs during a preventive examination. In the presented clinical case, the patient’s disease was asymptomatic for a long time, for the first time, focal formations in the lungs were identified in 2020 and only a year later non-specific symptoms joined. Despite multiple consultations with narrow-profile specialists and the implementation of visualization methods of examination, the diagnosis of «lung leiomyomatosis» was made only four years later after a three-fold revision of histological blocks and the exclusion of other causes of focal pulmonary dissemination. This clinical case demonstrates a rare pathology and the complexity of differential diagnosis that doctors of all specialties may encounter. The features of the disease and the complexity of differential diagnosis determine the necessity of a multidisciplinary approach to the treatment of patients with this pathology.



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ISSN 2226-6704 (Print)
ISSN 2411-6564 (Online)