Environmental protection measures in mineral resource development: case study of a gold-bearing deposit in the Russian Far East.

In the Russian mining industry, the recent social and economic processes inevitably affect environmental safety and the social security of all those affected by mining. Thus, this study aimed to evaluate the technogenic impacts of a mining company on the environment. Measures were developed and implemented to ensure ecological safety and social security during a mineral resource development project in the southern part of the Russian Far East. This study analysed global experiences in this regard and carried out field research with the aim of establishing an inventory of plants and animals (terrestrial and aquatic), showing that technogenesis produced new specific landforms, e.g. quarries and dumps that replaced natural landforms. The main ecologically negative impacts of the mining operations in the region were the movement of mountain masses, changes in forms of erosion, and destruction of mountain ranges with the formation of dispersed clastic fractions of large specific surface areas, which determine exomorphodynamic processes, e.g. deflation, suffusion, and landslides. A general assessment of the biota status and natural water quality within the boundaries of influence of the developed deposit was presented, and a set of measures was recommended for environmental protection and ensuring the rational use of natural resources during mining operations. Moreover, the necessity of creating effective mining and environmental monitoring systems was supported. A 'Map of the Ecological State of Gold Mining Development in the Albazino Territory' was compiled for the first time, pinpointing areas undergoing various degrees of environmental stress. Changes in the forested areas within the territory of the mining allotment were forecast using the forest cover of the study area as the baseline.

The myeloid sarcoma treated by Venetoclax with hypomethylating agent followed by stem cell transplantation: rare case report.

BACKGROUND: Myeloid sarcoma (MS) is a very rare condition, develops both in patients with other hematological neoplasms, and as isolated tumor. MS of the gynecologic tract is extremely rare. An available literature data about diagnosis and management of MS is summarized in the article. The role of chemotherapy, radiation therapy, surgery and bone marrow transplantation in the treatment is discussed. Polychemotherapy and allogeneic bone marrow transplantation were suggested to be the optimal treatment strategy of MS of the gynecological tract. The use of new targeted agents results in promising clinical data. CASE PRESENTATION: We are presenting a rare clinical case of a MS of the uterine cervix with concomitant bone marrow involvement and describe all the peculiarities of the clinical course, diagnosis, and treatment. The patient received chemotherapy followed by allogeneic bone marrow transplantation. The pre-transplant therapy allowed us to perform allogeneic bone marrow transplantation with the deepest response possible: complete PET-negative and MRD-negative remission of the disease. CONCLUSIONS: MS remains a subject of discussion regarding its diagnostic and therapeutic aspects. The use of novel targeting agents can be perspective option for patient with extramedullary disease.

Generation of iPSC line from desmin-related cardiomyopathy patient carrying splice site mutation of DES gene.

Human iPSC line was generated from patient-specific adipose tissue-derived mesenchymal multipotent stromal cells carrying desmin (DES) gene heterozygous splice site mutation using non-integrative reprogramming method. Reprogramming factors OCT4, KLF4, SOX2, CMYC were delivered using Sendai viruses. iPSCs were characterized by sequencing, karyotype analysis, STR analysis, immunocytochemistry, RT-PCR and teratoma formation.

Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects.

BACKGROUND: Ring chromosome 18 [r(18)] syndrome represents a relatively rare condition with a complex clinical picture including multiple congenital dysmorphia and varying degrees of mental retardation. The condition is cytogenetically characterized by a complete or mosaic form of ring chromosome 18, with ring formation being usually accompanied by the partial loss of both chromosomal arms. Here we observed a 20-year-old male patient who along with the features typical for r(18) carriers additionally manifested a severe congenital subaortic stenosis. To define the genetic basis of such a compound phenotype, standard cytogenetic and high-resolution molecular-cytogenetic analysis of the patient was performed. CASE PRESENTATION: Standard chromosome analysis of cultured lymphocytes confirmed 46, XY, r(18) karyotype. Array-based comparative genomic hybridization (array-CGH) allowed to define precisely the breakpoints of 18p and 18q terminal deletions, thus identifying the hemizygosity extent, and to reveal an additional duplication adjoining the breakpoint of the 18p deletion. Apart from the terminal imbalances, we found an interstitial microdeletion of 442 kb in size (18q12.1) that encompassed DTNA gene encoding α-dystrobrevin, a member of dystrophin-associated glycoprotein complex. While limited data on the role of DTNA missense mutations in pathogenesis of human cardiac abnormalities exist, a microdeletion corresponding to whole DTNA sequence and not involving other genes has not been earlier described. CONCLUSIONS: A detailed molecular-cytogenetic characterization of the patient with multiple congenital abnormalities enabled to unravel a combination of genetic defects, namely, a ring chromosome 18 with terminal imbalances and DTNA whole-gene deletion. We suggest that such combination could contribute to the complex phenotype. The findings obtained allow to extend the knowledge of the role of DTNA haploinsufficiency in congenital heart malformation, though further comprehensive functional studies are required.