In 2018 marks the 100th anniversary of the death of Evgeny Sergeevich Botkin, who was the last medical doctor of the last Russian emperor Nicholas II and voluntarily went to his death with his patients. The article considers the main stages of the life and professional path of E.S. Botkin, his contribution to the development of national medicine is estimated. His scientific, pedagogical and social activities are described, and basic biographical data are presented. Separately, ethical views on the doctor's duty, based on the principle of the dominant interests of the patient, are characterized.
Jeune syndrome (synonym: asphyxiating thoracic dystrophy) is a rare genetically heterogeneous autosomal recessive disease, characterized by the development of generalized osteochondrodysplasia, anomalies of skeletal system with multi-organ involvement. This syndrome is based on mutations of the IFT80, DYNC2H1, WDR19, TTC21B genes localized in the locus of chromosomes 3q25.33, 11q22.3, 4p14, 2q24.3 respectively and mutation in the locus of chromosome 15q13 too. These genes play an important role in functioning of cilia in the mammalian body. These organelles participate in the development of the skeletal and hepatobiliary system, nephrons, retina, and other structures of the body. Thurs Jeune syndrome belongs to the ciliopathies. The article presents modern literature findings on genetics, pathogenesis, its clinical, X-ray presentations and CT patterns, diagnosis and treatment of this rare disease. The article also presents the first Russian case series including 7 patients with this disease. Combinations of such symptoms as narrow bell-shaped thorax, variable limb shortness, respiratory failure, including oxygen dependence, recurrent respiratory infections, and motor development delay in observed patients helped to diagnose Jeune syndrome in all cases.
The literature review provides current information on risk factors, clinical features, advanced diagnostic capabilities, prognosis diffuse disorders of growth and development of lung like interstitial lung disease specific to early childhood. Diffuse disorders of growth and development in children assigned to interstitial disease, due to the fact that along with anatomical defects of the lung, there is a significant increase in the interstitial tissue. Diffuse lung development disorders - acinar dysplasia, congenital alveolar dysplasia, and alveolar capillary dysplasia with misalignment of pulmonary veins is a rare condition, clinically manifested in the first hours of life, severe RDS infants, have a poor prognosis. Early diagnosis is essential for determining the management plan and prognosis of the disease. Diffuse lung disorders of growth occur in different states: bronchopulmonary dysplasia, pulmonary pathology in the neonatal period as in full-term baby so, chromosomal anomalies (trisomy 21 chromosome) and congenital heart diseases at chromosomal anomalies, and without them, congenital defects of other organs. Growth disorders formed as prenatally and postnatally and reflective of abnormalities of alveolarization. Pathology and radiology interpretation often noted the presence of emphysematous changes in these cases. The severity of the clinical course, complications, prognosis can vary in different forms. Lung growth disorders are risk factors for recurrent respiratory diseases and contribute to their chronic course.
Down syndrome - the most common human congenital disease, the most common chromosomal abnormality (trisomy of chromosome 21). In addition to the phenotypic features of multiple anomalies on the part of the cardiovascular, central nervous and immune systems, gastrointestinal, musculoskeletal system, is very common in patients with Down syndrome are diseases of the respiratory tract. The article presents current data from the literature on the causes of recurrent respiratory infections, obstruction of the upper and lower respiratory tract infections, obstructive sleep apnea associated with phenotypic characteristics of children, predisposing to obstruction. The data on the consequences of such abnormalities of the respiratory tract as a tracheal bronchus. Detailed description of interstitial lung disease in Down syndrome that can develop as a primary pathological process or be the result of infectious lesions and aspiration. Computed tomography allows visualization of pulmonary disorders architectonic, perilobulyarnye shading, depletion of lung pattern at the level of segments and subpleural cysts, the diagnosis of which is of great importance due to the high risk of pneumothorax. We discuss the etiology of the structural changes in the lung, their relationship with pulmonary hypoplasia and congenital heart disease. It is emphasized that the assessment of biopsies morphologists in Down syndrome is complex, as there are multiple, overlapping lung damage. Powered by observation of the patient with Down syndrome and subpleural cysts in the lungs. Thus, patients with Down syndrome have a variety of respiratory symptoms, the possibility of these lesions should be considered in the management of patients.
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