De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.

Intellectual disability is the most common developmental disorder caused by chromosomal aberrations as well as single-nucleotide variants (SNVs) and small insertions/deletions (indels). Here we report identification of a novel, probably pathogenic mutation in the WHSC1 gene in a patient case with phenotype overlapping the features of Wolf-Hirschhorn syndrome. Deletions involving WHSC1 (Wolf-Hirschhorn syndrome candidate 1 gene) were described earlier in patients with Wolf-Hirschhorn syndrome.

[The use of EPR spectroscopy to control the changes of organism radiosensitivity/radioresistance. Experimental and clinical results].

The responses of deoxyribonucleotide (dNTP), DNA and protein synthesis systems in blood-forming organs of animals (dogs, mice) as well as changes in Fe(3+)-transferrin (Fe(3+)-TF) and Cu(2+)-ceruloplasmin (Cu(2+)-CP) pools in blood to gamma-irradiation and the administration of radioprotectors have been studied. It has been shown that changes in Fe(3+)-TF and Cu(2+)-CP pools in blood are indices of changes in the body radioresistance and are reliably controlled by the EPR technique. An increase in the Fe(3+)-TF pool promotes the activated synthesis of dNTP, DNA and Fe(3+)-containing proteins which are essential for the repair efficiency during the early post-irradiation time as well as for the development of compensatory and restorative reactions of cellular systems; i.

Analysis of genomic instability in the offspring of fathers exposed to low doses of ionizing radiation.

Transgenerational genomic instability was studied in nonirradiated children born from fathers who were irradiated with low doses of ionizing radiation while working as clean-up workers at the Chernobyl Nuclear Power Plant (liquidators) and nonirradiated mothers from nuclear families. Aberrant cell frequencies (ACFs), chromosomal type aberration frequencies, and chromatid break frequencies (CBFs) in the lymphocytes of fathers-liquidators, and their children were significantly higher when compared with the control group (P < 0.05).

[Clinical immunological disorders in children from various observation cohorts exposed to radiation factor during various stages of oncogenesis].

The immune status disorders and features depending on the radiation impact type in various cohorts of radiation observations long after the Chernobyl (CNPP) disaster and the possible role of these disorders in development of chronic somatic pathology in children are shown. Lymphocyte depletion, T-cell immunity component disorders in the form of cell contraction with CD3, CD4, CD8 markers and the B-cell immunity component disorders in the form of reducing the quantity of CD10, CD23 marker cells were observed in children subject to combined chronic irradiation by 131I, 137Cs, 90Sr radionuclides. The descendants of irradiated parents (the 1st generation; children of the Chernobyl accident consequences liquidators, children of the citizens of radiation contaminated territories with various 137Cs levels) had immunity disorders of different type.

[The problem of the transgeneration phenomenon of genome instability in sick children of different age groups after the accident at the Chernobyl Nuclear Power Plant].

A complex genetic examination of children which belong to two cohorts and their parents were carried out. The first cohort included children and constantly living on territories contaminated with radionuclides (Novozybkov district, Bryansk region). They were subdivided in groups according to the ontogenetic age periods of development of their parents at the time of the Chernobyl accident.

[The organization of medical aid to children of various cohorts of supervision, undergone to the influence of small dozes of radiation].

In clause the stages of organization of medical aid to children who undergone to the influence of the ecopathologic factors, including small dozes of ionizing radiation are submitted. The features of various stages of medical aid in nearest time after influence of the radiating agent are shown. The methodological complexities of diagnostic measures in the late times after the ecopathologic influence of small dozes of ionizing radiation are submitted, the role of the radiosensitivity in formation of pathological somatic diseases of condition at children is considered.

[The problem of induced genome instability as the basis of the increased morbidity in children exposed to low-intensity radiation at low doses].

The main results of the complex examination of the genome instability are presented in children constantly living on territories contaminated with radionuclides as a result of the accident at the CNPP (Novozybkov district, Bryansk region, 16-18 Ci/km2, 137Cs) and in children exposed to low-intensity radiation at different stages of ontogenetic development: children exposed to postnatal irradiation in 1986 (born before the accident), children exposed to intrauterine irradiation during the accident in 1986, children of irradiated parents born after the accident in 1987-1992 and in 1994-2000. In all examined groups of irradiated children increased frequencies of certain radiation-induced chromosome aberrations were observed as well as a reduced activity of unscheduled synthesis of genomic DNA in lymphocytes and peculiarities in individual heterozygosity of genes encoding structural and enzymatic proteins of blood. An increased radiosensitivity of lymphocyte genomes to testing in vitro irradiation and peculiarities in the dynamics of the frequencies of chromosome aberrations and sister chromatid exchanges in 3 cell generations were revealed in children from the contaminated areas.

[The intellectual development of the children exposed to the influence of the ionizing radiation].

The mental development level of the children living in the territories polluted by the radioactive nuclide as the result of Cheernobil power plant damage, exposed to the prenatal irradiation, evacuated from the alienation zone, born from parents-liquidators (1st generation of the irradiated people) was evaluated. 177 children were examinated. The control group included 34 children not exposed to the radiation.

[Characteristics of infection in children during prolonged oxidative stress after radiation exposure].

In the article on discusses the problems of origin and duration of chlamydia and herpes-virus infection in children with chronic somatic pathology and different degrees of radiation stress in contaminated territories of Brianskaya region (the level of contamination according to 137Cs = 9.37-19.73 Ci/km2).

[Evaluation of the immune and interferon status of children infected with herpes simplex virus and living in areas with increased radiation background].

Virological and immunological examinations were carried out in 52 children aged 4 to 15 living at the Bryansk district territories contaminated with radionuclides after the Chernobyl accident. The persistence of herpes simplex virus (HSV) in the blood was detected by indirect immunofluorescence in 90% of children, in 10% it was confirmed by the virus isolation in vitro in a cell culture. Specific antibodies to HSV-1 and HSV-2 were detected by enzyme immunoassay in 100% examinees, in 50% their titers surpassed those in the control group.

[The host-opportunistic protozoa system. The incidence of mixed infections (Pneumocystis and cytomegalovirus) in children living in radionuclide-contaminated areas].

The purpose of our study was to determine the influence of ionized radiation onto the frequency of mixed infections (P. carinii and Cytomegalovirus) in children inhabitants of the settlements affected with radionuclide after Chernobyl accident. Two groups of children were under survey.

[The host-opportunistic protozoa system. The effect of ionizing radiation on the prevalence of cryptosporidiosis and pneumocystosis].

The aim of this study was to determine an influence of ionized radiation on the prevalence of Cryptosporidium and Pneumocystis carinii (P. c.) infections in children inhabitants of settlements affected by radionuclides after Chernobyl accident.

[The genetic sequelae of the Chelyabinsk and Chernobyl radioactive contaminations].

Genetic consequences of radioactive fall-outs of the Chelyabinsk plant producing plutonium (1949-1952) and the Chernobyl accident have been analysed. Three powerful radioactive fall-outs caused a population genetic dose of 682,801 cSv per 217,750 persons (the average dose was 2.25 cSv).

[Markers of the metabolic changes arising as a result of ionizing radiation exposure].

Time-related changes have been studied in the content of extracellular DNA, Fe(3+)-transferrin (TF), and Cu(2+)-ceruloplasmin (CP) in the blood plasma and the activity of ribonucleotide reductase (RR) in the tumor cells and spleen of mice during the development of acute lympholeukosis P-388 and after ionizing irradiation. At the initial stages of leucosis P-388, the content of extracellular DNA increases, the TF and CP pools in the blood plasma enlarge, and the RR activity in the tumor cells and spleen of tumoral mice markedly increases. A dose-dependent increase in RR activity was also recorded in the spleen of 5-day-old rats within 15-30 min after irradiation.

[Dna repair activity in children exposed to small doses of ionizing radiation as a result of the accident at the Chernobyl nuclear power station].

The repair activity of DNA was studied by variola vaccine virus reactivation and induced mutagenesis tests in the peripheral blood lymphocytes of children living in areas with an increased level of ionizing radiation due to breakdown at the Chernobyl' nuclear power station. A more profound repair disturbance was revealed in children living on strictly controlled territories and born after the disaster, compared to those born before it, and children living in areas where the radiation level does not exceed background values. The disturbances were characterized by increased induced mutagenesis and decreased reactivation of the variola vaccine virus.

[The formation of an adaptive response in children exposed to the effect of low doses of radiation as a result of the accident at the Chernobyl Atomic Electric Power Station].

The ability of lymphocytes to form an adaptive response in cells of the children which were exposed to small radiation doses during the Chernobyl accident was studied by hydroxyapatite chromatography of cell lysates. Ten children living in the area with high radiation level (Bryansk region) and seventeen children living in the area with natural radiation level (Bryansk region too) were examined. No difference in cell ability to form adaptive response was found in both children group.