Spectrum of Causative Mutations in Patients with Hemophilia A in Russia.

Hemophilia A (HA) is one of the most widespread, X-linked, inherited bleeding disorders, which results from defects in the gene. Nowadays, more than 3500 different pathogenic variants leading to HA have been described. Mutation analysis in HA is essential for accurate genetic counseling of patients and their relatives.

[Mutational Analysis of Hemophilia B in Russia: Molecular-Genetic Study].

Hemophilia B is a hereditary X-linked coagulation disorder. This pathology is caused by various defects in the factor IX gene, which is, being about 34 kb long and consisting of eight exons, localized in the Xq27 locus of the. X-chromosome long arm.

[Hereditary afibrinogenemia: A literature review and clinical observations].

Afibrinogenemia is a rare congenital coagulopathy that leads to life-threatening bleeding. In afibrinogenemia, plasma fibrinogen levels are less than 0.1 g/L.

[The effect of the succinic acid preparation on the dynamics of neurological and emotional disturbances in patients with dorsopathy].

Objective: To study the dynamics of neurological and emotional disturbances in patients with dorsopathy treated with cytoflavin.

Material And Methods: We examined 120 patients aged from 21 to 55 years, mean age 38±9 years. All patients received nonsteroid anti-inflammatory drugs, myorelaxants, vitamins.

[Experimental evaluation of combined effects caused by stress and metals (cadmium and aluminium) in reproductivity of male rats].

To investigate combined effects of stress and metal (aluminium, cadmium) on reproductivity, male rats twice per week received intraperitoneal injections of aluminium (3.8 mg Al3+ per kg of body weight) or cadmium (0.3 mg Cd2+ per kg of body weight) and were subjected to stress via short-term immobilization during spermatogenic cycle (54 +/- 3 days).

[Aerogenic risk factors and diagnosis of bauxite pneumoconiosis].

The research purpose is an estimation of influence of the bauxite dust on the state of the bronchopulmonary system of workers. It has been indicated that exposure of the poor fibrogenic dust while the process of the bauxite ore extraction, results in development of pnevmokoniosis characterized by substantial ventilatory and haemodynamic disorders limiting the workability of patients.

[Effective photosensibilizator selection for E.N.T.-organ diseases treatment, based on their accumulation in pathologically changed tissues].

Accumulation of photosensibilisators - derivatives of E6 chlorines ("Radachlorine", "Photoditazine", "Zelevsky's balsam") in the mucous membrane and selection of most effective sources of emission have been investigated in 30 patients with rhinosinusitis and 10 with tonsillitis. As a source of emission we used light emitting diode (LED) matrix device "ACT" (wavelength approximately 405 nm (Sore band)) and a laser device LAHTA-"MILON"-ML500-SP (wavelength 662 nm). Drug accumulation in the mucous membrane and changes of their concentrations after emission were evaluated by changes of fluorescence, measured with a LESA-01-BIOSPEC spectrometer.

[Clinical and pathogenetic aspects of the chronic occupational intoxication with fluorine compounds in modern reality].

Multi-year follow-up of 358 workers of aluminum pot rooms, including 165 individuals suffering from fluorosis, has shown significant changes in the clinical picture of the chronic occupational fluorine intoxication, developed under modern conditions of production, at lower concentrations of fluorine compounds in the air of working area. In this connection, the pathology of the musculoskeletal system plays the dominating role in this clinical picture and has the large variability of combinations of the individual sections destructions of the bone tissue. The main criterion to establish the phase of the disease is still the number and severity of the signs of this destruction.

[Health and life quality of workers in industrial Urals region].

The authors present data on occupational morbidity among workers of Urals area, life quality of the workers in some economic branches, on work process role in chronoalgorithm of body systems functioning. Suggestions cover a variant of program aimed to preventive therapy and preservation of healthy lifestyle.

[Biologic markers of exposure to and effects of fluorine compounds in workers engaged into aluminum industry].

The study in 727 workers exposed to inorganic fluorine compounds revealed through ultrasound densitometry changes in fluorine excretion and bone tissue density in accordance with the length of service, through markers of bone destruction and synthesis features of bone remodelling were specified.

[Symptoms of asbestos-related diseases and correction of hemodynamic and ventilation changes in asbestosis patients].

The authors present results of thorough examination of asbestosis and dust bronchitis patients, features of dust load and X-ray functional changes, efficiency of physical therapy complexes in correcting cardio-pulmonary syndrome.

[Assessment and management of risk to the working population's health in the occupational medicine system].

The multidisciplinary harmonized "Occupational Medicine" system established in the Sverdlovsk Region makes it possible, firstly, to analyze and assess occupational risks at both the regional and municipal levels; secondly, at each of the above level, to take specific managerial decisions including the packages of organizational, informational, preventive, and other measures to minimize risks on the cost-benefit basis.

[The results of studies of the effect of asbestos on the health of working people and the population, conducted by the Yekaterinburg Medical Research Center].

The paper presents the basic results of 75-year studies of the Yekaterinburg Medical Research Center to evaluate the effect of asbestos on the health status of working people and the population, which have yielded basic hygienic, sanitary, clinical, epidemiological, and experimental data on the effect of asbestos on the health status of working people and the population and led to the conclusion that the center's experience in studying the problems may serve as the real basis for substantiating the safe permissible controlled use of chrysotile asbestos.

[Medical technologies for prophylaxis and health preservation for workers, within realization of national projects].

The authors present principles underlying development of technologies for prevention and rehabilitation of occupational diseases. Those technologies prevent occupational diseases in workers exposed to occupational hazards, reduce hospital stays, disablement duration and increase remission.

[Clinical and immunological assessment of efficacy of mexidol in the treatment of lumbosacral radiculopathy].

Efficacy of mexidol in the complex treatment of lumbosacral radiculopathy has been analyzed. Comparing to the traditional treatment using clinical and immunological methods, this method proved to be superior.

[Thromboembolism of the pulmonary artery in Willebrand's disease].

Aim: To ascertain risk factors of thromboembolism of the pulmonary artery (TPA) in Willebrand's disease (WD).

Material And Methods: We made a retrospective analysis of hospitalizations of WD patients for 10 years. We analysed causes of the patients' admission, interventions, registered maximal levels of factor VIII (FVIII) and Willebrand's factor (FW) in which the interventions were made, cases of TPA.

[Features of chronic occupational bronchitis in nonferrous metallurgy workers].

The authors summarized results of periodic medical examinations and deep clinical studies of metallurgy workers with bronchial and pulmonary disorders. The article covers clinical and functional characteristics of toxic and dust bronchitis, clinical course and manifestations.

[Priority topics of industrial medicine in production and processing of nonferrous metals alloys].

The authors present general characteristics of nonferrous metals alloys production: work conditions, health state of workers, main directions to make healthier work conditions.

[Contemporary problems of asbestos and prospective research directions].

The authors determined prospective directions in researchon asbestos problem--risk evaluation, early diagnosis and physiotherapy of asbestos-related diseases; sanitary and epidemiologic well-being of population influenced by enterprises extracting and concentration of asbestos; evaluation of new production and development of legal regulation of safety for work with natural and artificial mineral fibers.

["Industrial Hygiene" system as a basis of medical service for workers in Sverdlovsk region].

The authors suggest a concept of multifield specialized "Industrial Hygiene" service based on integrated system of medical and social care, that includes monitoring of work conditions, evaluation of occupational risk and its management for prevention of and lowering general and occupational morbidity, transitory disablement morbidity, disability and premature deaths, for preservation of labour force in Sverdlovsk region.

[Structural organization of blood serum in occupational respiratory diseases].

The authors demonstrated that in workers having pulmonary dust diseases, serum blood dehydration ("closed drop" preparation) reveals in polarized light very specific structure different from that in the reference group members. Morphologic properties of various structures could prove silicotic process development.

Lamins and their functions in cell cycle.

The data on the structure, functions, and classification of lamins, the main protein components of nuclear lamina, are reviewed. The participation of lamina in the rearrangements of the nuclear membrane during cell division is considered in detail. The recent data on the organization of interphase chromatin and its interaction with the nuclear peripheral structures are described.

[Efficacy of therapeutic use of ultrasound and sinusoidal modulated currents combed with halotherapy in patient with occupational toxic-dust bronchitis].

Immunological and cardiorespiratory characteristics were studied in 88 alloy industry workers with occupational toxic-dust bronchitis who received the following therapy: sinusoidal modulated currents (SMC), ultrasound (US) on the chest, halotherapy (HT) (52 patients, group 1); SMC + HT (10 patients, group 2); US + HT (15 patients, group 3); HT (11 patients, group 4). The patients did also therapeutic exercise and were massaged (chest). It was found that device physiotherapy (SMC, US) in combination with HT raise the treatment efficacy to 86.