Exome-based search for recurrent disease-causing alleles in Russian population.

Exomes of 27 Russian subjects were analyzed for the presence of medically relevant alleles, such as protein-truncating variants (PTVs) in known recessive disease-associated genes and pathogenic missense mutations included in the ClinVar database. 36 variants (24 PTVs and 12 amino acid substitutions) were identified and then subjected to the analysis in 897 population controls. 9/36 mutations were novel, however only two of them (POLH c.

[Possibilities of transfusion therapy in surgical practice].

The up-to-date possibilities of transfusion therapy are presented in the article. The authors analyzed their own experience and made a review of literature. The study considers the mechanisms of treatment, immunological and infectious risks, indications and contraindications for application of transfusion therapy in surgical practice.

Evidence for depletion of CASP5 Ala90Thr heterozygous genotype in aged subjects.

Our previous studies, which included genotyping of multiple coding apoptotic gene polymorphisms, unexpectedly demonstrated a depletion of heterozygous CASP5 Ala90Thr (rs507879, c.268 G>A) genotypes in elderly subjects. Present investigation was aimed to validate this trend.

Combined CYP1A1/GSTM1 at-risk genotypes are overrepresented in squamous cell lung carcinoma patients but underrepresented in elderly tumor-free subjects.

Purpose: Polycyclic aromatic hydrocarbons are activated by cytochrome P450 1A1 (CYP1A1) and inactivated by glutathione S-transferase mu (GSTM1). Therefore, it is expected that a combination of proficient CYP1A1 genotype with deficient GSTM1 variant would result in particularly elevated lung cancer (LC) risk, especially for squamous cell carcinoma (SCC). This study was aimed to validate whether the CYP1A1-C (3801) (CYP1A1*2) allele has an unfavorable significance alone and/or in combination with the GSTM1 deficiency.

[Allelic distribution of the CYP1A1 in lung cancer patients, middle-aged tissue donors and in elderly people without cancer].

The genetic polymorphism of metabolizers of tobacco smoke carcinogens can influence individual susceptibility to lung cancer. The study was concerned with the Mspl-polymorphism of the CYP1A1 gene responsible for encoding aryl hydrocarbon hydroxylase. It also plays a role in the activation of polycyclic aromatic hydrocarbons (PAH).

Combined surgical and immunotherapeutic treatment of patients with fourth stage colon cancer.

Sixty-five patients with the fourth stage colon cancer were subjected to the combined surgical and immunotherapy. The following conclusions are made: (1) surgical elimination of the bulk of tumor mass is a necessary prerequisite for effective immunotherapy; (2) vaccination with autological tumor cells accompanied with bacille bilié de Calmette-Guérin (BCG) as the adjuvant and with interleukin-2 as the immunostimulator effectively prevents metastasizing after successful surgery; (3) the vaccine must necessary contain living tumor cells adequately presenting tumor antigens; and (4) in some cases, immunotherapy causes undesirable autoimmune complications. They can be registered by corresponding inflammation control methods.

[Prognostic significance of the activity of nucleolar organizer regions in megakaryocytes from patients with acute lymphoblastic leukemia].

Bone marrow films from 20 patients with acute lymphoblastic leukemia (ALL) and 40 patients with acute nonlymphoblastic leukemia (ANLL) were investigated using Ag-NOR staining. The control group comprised 12 donors. The activity of nucleolar organizer regions (NOR) in the whole population of megakaryocytes (MK) and in groups of MK with 1-3, 4-6, 7 and more lobules per nucleus was assessed.

Interphase ribosomal RNA cistron staining in chronic myeloid leukaemia.

Aim-To evaluate the haemopoietic function of bone marrow blood forming cells in human chronic myeloid leukaemia (CML) by means of silver staining of nucleolar organiser region (AgNOR).Methods-Nucleoli were investigated in bone marrow blast cells and in erythroid, granulocytic, and megakaryocytic cells from 10 haematologically healthy subjects and from 26 patients with chronic myeloid leukemia (17 in benign phase, nine with blast crisis). The investigation was done before treatment, by means of a one step silver staining method.

[Activity of nucleolar organizers in megakaryocytes from patients with leukemia].

The activity of nucleolar organizer regions (NOR) in megakaryocytes (MK) from 21 patients with acute lymphoblastic leukemia (ALL), 35 patients with acute nonlymphoblastic leukemia (ANLL) and 12 patients with blast crisis of chronic myeloid leukemia (BC CML) were studied by silver staining. The control group consisted of 12 donors. The activity of NOR in the whole population of MK and in groups of MK with 1-3, 4-6, 7 and over lobules per nucleus (MK 1, 2 and 3 class, respectively) were taken into account.

[Morpho-functional characteristics of normal and pathological human megakaryocytes studied by selective silver staining of cell nucleoli].

The activity of nucleolar organizer (NO) in megakaryocytes (MG) from 8 donors, 10 patients with immune thrombocytopenias (IT), 17 patients with chronic myelocytic leukemia (CML) and 14 patients with multiple myeloma (MM) was studied by silver staining. The average number of nucleoli in MG of normal donors comprised 21.8 per nucleus with a range from 16.