Differentiated Logopedic Rehabilitation of Rhinolalia in Early Uranoplasty

В статье рассматриваются особенности формирования речи детей с врожденной расщелиной неба после ранней уранопластики.A longitudinal observation of the speech development of 193 young children with congenital cleft palate made it possible to distinguish 4 groups of children among them: 1) children whose speech development is formed in accordance with the age-related norm, 2) children with a phonetic disorder of speech typical of rhinolalia, 3) children with a phonetic disorder of speech accompanied by lexico-grammatical underdevelopment, 4) children with a systemic underdevelopment of speech in combination with marked non-verbal disorders.Taking into account the peculiarities of speech formation in children with congenital maxillofacial pathology, the authors of the article have developed a differentiated program of logopedic rehabilitation. Logopedic technologies for rehabilitation of rhinolalia are exceptionally urgent in the work with the children of the second and third groups. In relation to the children of the first group, these technologies have a preventive orientation, and for the children of the fourth group they are auxiliary rehabilitation means

Successful experience of treatment of a patient with generalized non-GCB- DLBCL using the R-mNHL-BFM-90 protocol with lenalidomide: case report and review of literature

Diffuse large B-cell lymphoma is categorized by gene expression profiling into germinal center (GCB) and activated B-cell (ABC) subtype, also referred to as non-germinal center B-cell (non-GCB) by immunohistochemistry. ABC DLBCL is characterized by NF-κB pathway activation and high expression of IRF4/MUM1, a key transcription factor in B cell differentiation. Patients with ABC DLBCL have a significantly worse outcome when treated with standard chemotherapy (R-CHOP). Lenalidomide have shown activity in the ABC-DLBCL in combination with R-CHOP. But about 40% of patients remain resistant. We present the experience of treatment of a patient with generalized non-GCB-DLBCL using the intensive protocol R-mNHL-BFM-90 with lenalidomide

INFLUENCE EXERTED BY SOMATIC PATHOLOGY ON RISKS OF OCCUPATIONAL LUNG FIBROSIS IN WORKERS EMPLOYED AT REFRACTORY PRODUCTION

Occupational lungs and bronchial pathology occurs not only under exposure to dusts, their aerosol structure and aggression, but also depends on individual properties of a body. The latter can determine either increased body resistance or susceptibility to occupational pathology occurrence. Our research goal was to determine influence exerted by somatic pathology on occupational lung fibrosis occurrence as well as to estimate prevalence of risk factors for cardiovascular and metabolic pathology occurrence in workers employed at refractory production. At the first stage 449 workers employed at refractory production were examined at a periodical medical examination (PME). Patients' average age was 41.59 ± 0.45 and average work experience was 14.47 ± 0.39 years. At the second stage 172 workers were examined at an occupational pathology center; 75 out of them were workers who had silicosis and were included into the test group and the remaining 97 workers didn't have any occupational pathology and were included into the reference group. Both groups were comparable as per sex (p = 0.0052) and work experience under exposure to dusts (p = 0.862). Workers examined at a PME most frequently had overweight and obesity (68 %). Arterial hypertension (AH) prevalence amounted to 19.5%; carbohydrate metabolism disorders, 19.8 %; 48.1 % workers had hypercholesterolemia. Patients with silicosis had certain disorders significantly more frequently than workers with long work experience but without any occupational pathologies; those disorders were AH, cardiac muscle hypertrophy in the left ventricle, ischemic heart disease, heart rate disorders, as well as mixed (obstructive and restrictive) breath mechanics disorders. We determined some factors that authentically produced certain effects on occupational lung fibrosis occurrence in workers employed at refractory production. Median time of silicosis occurrence was significantly shorter (by 11.5 years) among workers with severe AH, arrhythmia (by 13 years), lower hemoglobin in blood (by 11.5 years). Besides, silicosis occurred significantly earlier (by 10.8) among women than among men. © 2020 Obukhova T.Yu., Budkar' L.N., Gurvich V.B., Solodushkin S.I., Shmonina O.G., Karpova E.A.,. All Rights Reserved

Structure and significance of cytogenetic abnormalities in adult patients with Ph-negative acute lymphoblastic leukemia

Objective. To evaluate occurrence, variety, structural peculiarities and prognostic meaning of cytogenetic abnormalities in adult patients with Ph-negative acute lymphoblastic leukemia (ALL) receiving therapy according to ALL-2009 protocol. Materials and methods. The study included 115 adult patients with firstly diagnosed Ph-negative ALL: 58 male and 57 female aged from 15 to 61 years (mean age 26.5 years), who underwent treatment from September 2009 to September 2015 in National Medical Research Center for Hematology MH RF (n=101) and in hematology departments of regional hospitals (n=14). All patients received therapy of ALL-2009 protocol (ClinicalTrials.gov, NCT01193933). The median follow-up was 24.5 months (0.2-94.4 months). As a part of the study results of a standard cytogenetic assay (SCA) were analyzed and fluorescence hybridization in situ (FISH) with the use of DNA-probes was performed on archived biological material for structural changes in gene locuses MLL/t(11q23), с-MYC/t(8q24), TP53/ deletion 17p13, CDKN2A/ deletion 9p21, translocation t(1;19)/E2A-PBX1 и t(12;21)/ETV6-RUNX1; iAMP21 identification. Results. Karyotype was defined using SCA in 86% of patients. Normal karyotype was found in 48.5% of them, chromosome aberrations in 51.5% (structural changes were found in 19.2%, hyperploidy in 27.2%, and hypoploidy in 5.1%). In 17.2% of patients complex karyotype abnormalities were found. With the use of FISH technique aberrations were found in 67% of patients: 9p21/CDKN2A deletion in 24.3%, MLL/t(11q23) gene abnormalities in 7.8%, 17p13/TP53 deletion in 5.2%, abnormalities of c-MYC/t(8q24) in 1.7%, t(1;19)/E2A-PBX1 in 0.8%, and iAMP21 in 0.8%, other abnormalities (additional signals/absence of signals from gene locuses) in 26.4%, t(12;21)/ETV6-RUNX1 was not found. FISH technique use in addition to SCA allows to increase aberrant karyotype location from 51.5 to 67%. A statistically significant correlation of 9p21/CDKN2A deletion with high serum lactate dehydrogenase activity (p=0.02); MLL/t(11q23) gene abnormalities - with leucocytosis and high blast cells level in blood (p=0.0016), hyperploidy - with normal leukocyte count (p=0.02) was shown. In groups with different cytogenetic abnormalities no statistically significant differences of treatment with ALL-2009 protocol were found (in terms of complete remission, early mortality and treatment resistance). When connection of cytogenetic abnormalities and their combinations with long-term results were analyzed according to ALL-2009 protocol, only two characteristics - MLL/t(11q23) and c MYC/t(8q24) gene abnormalities had a statistically significant influence on disease-free survival (HR - 176.9;

Mathematical Modeling of the Development of Chronic Fluorine Intoxication in Aluminium Industry Workers

Introduction. Chronic fluorine intoxication prevails among the newly discovered occupational diseases in aluminum industry workers. Mathematical modeling is one of the helpful tools in ensuring better risk management with respect to the development of occupational fluorosis. Objective. Developing a logistic regression model predicting a probability of occupational fluorosis development in an occupational staff of aluminum plants in order to suggest adequate prophylactic strategies. Material and methods. A logistic regression model predicting a probability of the development of occupational fluorosis in aluminum industry workers of the Sverdlovsk region was constructed. The model embraced the results of a univariate analysis conducted with respect to major occupational exposures and health characteristics of 201 workers. Results. Six major factors were identified as being predictive of occupational fluorosis development in aluminum industry workers: age (fluorosis risk increases with age); type 2 diabetes mellitus; atrophic gastritis; kidney cysts; X-ray examination data (fluorosis risk increases with the stage as determined by X-ray); the hydro fluoride concentration increases by more than 2 occupational exposure limits. The developed model was verified by clinical cases and showed a high predictive ability (86.2 %). Both sensitivity (true positive rate) and specificity (true negative rate) of the model amounted to 86.2 %. Conclusion. By multivariate analysis the significant, mutually independent factors were identified, their combination being associated with chronic fluorine intoxication in an occupational staff of aluminum plants. The developed mathematical model has a high predictive ability and can be recommended as a sure tool to forecast the course of occupational fluorosis development in the workers at the aluminum industry. © 2020 Izdatel'stvo Meditsina. All rights reserved.The work of Solodushkin was supported by Act 211 Government of the Russian Federation, contract No 02.A03.21.0006

Cardiovascular and Metabolic Disorders Associated with Occupational Lung Fibrosis in Employees Exposed to the Dust at the Workplace

Introduction. The attribution of certain medical conditions in industrial workers to hazardous exposures at the workplace remains a challenging issue of occupational health. Material and methods. In order to identify cardiovascular conditions associated with occupational lung diseases in workers exposed to fibrogenic dust, we conducted a medical check-up examination of individuals employed in refractory production and asbestos industry. The main group consisted of the patients with a confirmed diagnosis of lung fibrosis (asbestosis, silicosis); the reference group was age- and tenure-matched workers without occupational fibrosis. Results. We e stablished a significantly h igher prevalence of arterial hypertension, left ventricular hypertrophy, s inus tachycardia, obesity, hypertriglyceridemia and impaired fasting glycemia in workers with silicosis and asbestosis if compared to those without work-related diseases. Based on the relative risk and attributable fraction estimates, we assume there is moderate occupational causation for arterial hypertension and a strong one for left ventricular hypertrophy, sinus tachycardia, and obesity. Very strong causation was found between occupational exposure to fibrogenic dust and carbohydrate metabolism disorders. High-stage hypertension, dyslipidemia and left ventricular hypertrophy were found to have a statistically significant impact on the timing of silicosis. Whereas high-stage hypertension, coronary artery disease, left ventricular hypertrophy and obesity were found to impact the timing of asbestosis. Conclusion. Cardiovascular and metabolic disorders are statistically more occurrent in workers with silicosis or asbestosis. Therefore, the disease can be regarded as work-related. We established cardiovascular and metabolic disorders to have a statistically significant impact on the timing of silicosis and asbestosis. Therefore, a timely CVD prophylaxis could reduce the risk of occupational lung fibrosis in workers exposed to fibrogenic dust. © 2020 Izdatel'stvo Meditsina. All rights reserved.The work of Solodushkin was supported by Act 211 Government of the Russian Federation, contract No 02.A03.21.0006

Cardiovascular Toxicity in Copper Production Workers Exposed to Heavy Metals

Introduction. Cardiovascular diseases (CVD) are a leading cause of morbidity and mortality. The role of occupational hazards in the CVD prevalence remains to be clarified. Material and methods. Here we report the results of the study of risk factors and CVD prevalence in 590 workers at the largest copper production plants in the Sverdlovsk region, exposed to heavy metals in the workplace. The workers' health information was obtained during a regular medical examination in 2018. The lead concentration increase to 1.3-1.8 occupational exposure limits was registered in the working areas of the concentrating mill (for bunkerman) and copper smelting workshops (transporter, smelter, converter, non-ferrous metal spreader, repairman, electrician). Results. We studied the exposure indices (Pb level in blood), the response markers (reticulocyte count, erythrocytes basophilic stippling, coproporphyrin, and aminolevulinic acid in the urine), and their correlation to a working tenure. Based on this analysis, we attributed CVD risk factors and cardiovascular diseases to the occupation, in order to potentially modify some of those risk factors and ultimately inform the risk management. Hypertension occurred in 57% of the examined workers, which is higher than in the general population. We calculated relative risk, confidence intervals and attributable fraction. We developed a predictive mathematical model (stepwise logistic regression) to predict high-stage hypertension and identified the risk factors associated with its development. Conclusions. Correlation analysis revealed direct correlations between stages 2 and 3 hypertension and a working tenure over 20 years. We think it's reasonable to consider the documented CVDs as related to the toxic effects of heavy metals (lead and cadmium). © 2020 Izdatel'stvo Meditsina. All rights reserved.The work of Solodushkin was supported by Act 211 Government of the Russian Federation, contract No 02.A03.21.0006

Carbohydrate metabolism disorders in patients suffering from asbestos causing diseases

The aim of the study is to investigate the status of carbohydrate metabolism in patients with asbestosis and dust bronchitis. It has been revealed that the high prevalence of the carbohydrate metabolism disorders is specific for this kind of patients. Significant correlation relationship between some indicators of systemic inflammation and presence of the metabolic abnormalities has been also found. All this facts may indicate a possible role of the systemic chronic inflammation against the background of chronic bronchitis and asbestosis in the development of the carbohydrate metabolism disorders in patients suffering from «dust diseases» of lungs.Целью исследования явилось изучение состояния углеводного обмена у больных асбестозом и пылевым бронхитом. Установлена высокая распространенность нарушений углеводного обмена у данной категории больных и значимая корреляционная взаимосвязь между некоторыми показателями системного воспаления и наличием метаболических нарушений, что может свидетельствовать о возможной роли системного хронического воспаления при асбестозе и пылевом бронхите в развитии нарушений углеводного обмена у больных пылевыми заболеваниями легких

First experience of using Brentuximab vedotin and modified program NHL-BFM-90 in the front-line treatment of patient with anaplastic large-cell lymphoma: a case report and a review of literature

Nodal anaplastic ALK-negative large cell lymphoma (nALCL, ALK-) is a Т-cell lymphoma that is characterized by aggressive clinical course and low sensitivity to СНОР (cyclophosphamide, doxorubicin, vincristine, prednisolone) and other chemotherapy regimen. In the article we present a literature review and describe our clinical case of nALCL, ALK-. For the first time a combination of Brentuximab vedotin with modified program NHL-BFM-90 was used as a first-line therapy. As a result of immunochemotherapy a complete antineoplastic effect was obtained. For consolidation of this effect high-dose chemotherapy with following autologous blood stem cell transplantation was performed. The chosen treatment tactics allowed to achieve a complete remission in a medium risk group patient

Синдром VEXAS: на рубеже смены представлений об известных заболеваниях

This article presents the first case of VEXAS syndrome identified in the Russian Federation as well as characteristics of currently known clinical manifestations and treatment approaches. The clinical observation described is an impressive example of how the identification of a new pathogenic mutation can change the understanding of the classification, diagnosis and treatment of previously known immunoinflammatory diseases. Thus, in refractory forms of relapsing polychondritis, neutrophilic dermatosis, atypical forms of vasculitis, inflammatory joint diseases or undifferentiated systemic inflammatory syndrome, especially when associated with macrocytic anemia and myelodysplastic syndrome, VEXAS syndrome should be suspected and genetic testing should be performed to exclude the autoinflammatory nature of the existing condition.В статье приведен первый случай синдрома VEXAS, выявленный в Российской Федерации, а также характеристика известных на настоящий момент клинических проявлений и подходов к его терапии. Описанное клиническое наблюдение является ярким примером того, как выявление новой патогенной мутации может изменить представление о классификации, диагностике и терапии ранее известных иммуновоспалительных заболеваний. Так, при рефрактерных формах рецидивирующего полихондрита, нейтрофильного дерматоза, нетипичных формах васкулита, воспалительных заболеваний суставов или недифференцированном системном воспалительном синдроме, особенно при ассоциации с макроцитарной анемией и миелодиспластическим синдромом, необходима настороженность в отношении синдрома VEXAS и проведение генетического исследования для исключения аутовоспалительной природы имеющегося состояния