[New allelic variants of non-syndromic mental retardation of type 20 caused by mutations in the MEF2C gene]. / Novye allel'nye varianty nesindromal'noi umstvennoi otstalosti 20-go tipa, obuslovlennoi mutatsiiami v gene.

AIM: To determine clinical and genetic characteristics of patients with non-syndromic mental retardation (NMR), type 20 with autosomal dominant type of inheritance (OMIM: 613443). MATERIAL AND METHODS: Fourteen patients were studied including four patients with mutations in the MEF2C gene revealed by exome sequencing. Three of the four mutations in the gene were found for the first time. RESULTS: Based on a comparative analysis of the clinical manifestations of 4 observed patients and 9 patients with type 20 NMR described in the literature, the authors determined common clinical characteristics of this syndrome. In most cases with delayed psycho-speech development and convulsive syndrome, the patients were expected to have various variants of early epileptic encephalopathies, in which presence of convulsive paroxysms leads to intellectual deficit, while in the case of NMR, the delay in development can be noted long before the onset of seizures. CONCLUSION: Exome sequencing is the most effective method of NMR diagnosis.

[Structural properties of mixed saliva in persons with different levels of tooth resistance to caries].

Structural properties of mixed saliva were studied in 30 persons 16-18 years of age divided into 3 groups (10 persons in each) according to different levels of tooth resistance to caries -- 1st with high level of resistance (DMFT=0), 2nd with medium level of resistance (DMFT=4.3+/-0.82), 3rd with low level of resistance (DMFT=6.6+/-0.92). The difference between DMFT figures in groups 2 and 3 was insignificant. In salivary filtrate (collected in the rest conditions and after 5 g sugar load) pH (by potentiometry) and optical density (by photoelectric colorimetry) were determined. 60 saliva samples were collected and 240 determinations were made. In was found that 5 g sugar intake led to structural changes of oral fluid in all groups with different levels of tooth resistance to caries. But in persons with 0 caries incidence the oral fluid micelle resistance and saliva mineralizing capacity were higher than in persons with medium and low resistance to caries. The received data may be used for revelation of oral mineral homeostasis mechanisms and forecasting pathology arising in cases of its disturbance and for planning preventive and curative measures with consideration of their corrections depending upon the level of the individual resistance to caries.

[Structural characteristics of mixed saliva in patients with caries at different CDL values]. / Strukturnye svoistva smeshannoi sliuny u lits s kariesom pri raznykh znacheniiakh indeksov KPU.

Structural characteristics of mixed salivary pools were studied in 20 subjects aged 16-18 years. The examinees were divided into 2 groups, 10 subjects per group. Group 1 included patients with negligible caries involvement (CDL index 3.0 +/- 0.62), group 2 consisted of patients with greater involvement (CDL index 10.1 +/- 0.62). Statistically significant differences between these groups were detected for 2 parameters: pH and optical density. Acidification of the saliva and its optical density were higher in patients with greater caries involvement. Structural characteristics of the saliva were disordered in patients with multiple caries, which indicated impairment of mechanisms maintaining Ca2+ and HPO4(2-) ions in an oversaturated state and a decrease in the mineralizing potential of oral fluid. These data can be used for explaining the molecular mechanisms of homeostasis disorders in the oral cavity and evaluating the efficiency of preventive and therapeutic measures at early stages of dental caries.

[Effects of mouthwashes on the structural characteristics of human mixed saliva]. / Vliianie zhidkikh gigienicheskikh sredstv na strukturnye svoistva smeshannoi sliuny cheloveka.

Effects of TANA hygienic liquids on the structural characteristics of mixed saliva were studied in 9 subjects aged 15-20 years after tooth cleaning with Colgate and Pepsodent toothpastes. Tooth cleaning with Colgate paste led to structural changes in the saliva, but gargling with hygienic liquids "Soft Fluoride Gargling" and "Tartar Control" helped preserve its structure. Structural characteristics of the oral fluid were retained after tooth cleaning with Pepsodent toothpaste. Gargling with the above hygienic liquids after tooth cleaning with Pepsodent led to structural changes in the saliva or created conditions for such changes. "Fluoride Gargling for Children" used after tooth cleaning with both toothpastes promoted alkalization of the oral fluid, which can lead to lithogenesis in the oral cavity.

[An efficacy study of the treatment of patients with chronic pyelonephritis and urolithiasis using sulfate-bicarbonate calcium-magnesium mineral water]. / Issledovanie éffektivnosti lecheniia sul'fatno-gidrokarbonatnoi kal'tsievo-magnievoi mineral'noi vodoi bol'nykh khronicheskim pielonefritom i mochekamennoi bolezn'iu.

Clinical effects of spa treatment on renal function in middle-aged and elderly male and female patients with chronic pyelonephritis and urolithiasis was studied. Combined sanatorium treatment included a course intake of low-mineral sulphate-hydrocarbonate calcium-magnesium mineral water Kazanskaia. Diuresis, especially daytime, was activated in all the patients. Maximum diuresis was observed in cool seasons in the elderly patients. To the end of the treatment proteinuria, oxaluria and uraturia diminished. A course of drinking mineral water Kazanskaia proved effective and is recommended for patients with chronic pyelonephritis and urolithiasis.

[The determination of the coagulation threshold of the electrolyte potassium chloride in human mixed saliva]. / Opredelenie poroga koaguliatsii élektrolita khlorida kaliia v smeshannoi sliune cheloveka.

For quantitative assessment of the stability of dispersed phase corpuscles in the gingival fluid, coagulation threshold and coagulating effect of electrolyte KCl were studied in salivary pools of caries-resistant (CR) and caries-liable (CL) subjects by the optic method widely used for investigation of pure colloid systems. Test samples were prepared by mixing certain volumes of saliva, distilled water, and KCl. Light absorbance was measured by photoelectrocolorimetry on a MKMF-1 device and pH was measured by the potentiometric method using pH-121 device. Coagulation threshold and coagulating effect of the electrolyte were estimated using the graphic method. The saliva of both CR and CL subjects generally follows the regularities typical of pure colloid systems. KCl coagulation threshold of CR subjects' saliva is higher than of subjects with caries, while its coagulating effect is higher in the CL group. Dispersed phase corpuscles in the saliva of CR subjects are more stable than in subjects with caries. These results may be used in development of quantitative methods for assessing the stability of salivary dispersed phase corpuscles and salivary mineralizing capacity in subjects with different oral status.

[Changes in the structural properties of the saliva with pH changes]. / Izmenenie strukturnykh svoistv sliuny pri izmenenii pH.

The pH and active concentration of sodium ions were measured by the potentiometric method and optic density and concentration of inorganic phosphorus by photoelectrocolorimetry in mixed salivary pools of 10 subjects aged 16-18 years. A cariogenic situation was simulated in these pools by slight acidification with hydrochloric acid solution, which led to structural changes. Oral fluid of subjects with negligible caries is more resistant to unfavorable effects than mixed saliva of subjects with a higher index of decayed/lost teeth. Experimental studies revealed that pH = 6.2 is the critical value of hydrogen index, at which structural properties of saliva are positively disturbed and its mineralizing potential decreases. The data contribute to elucidation of the molecular mechanisms of caries development.

[The structural properties of the saliva in the modelling of a cariogenic situation]. / Strukturnye svoistva sliuny pri modelirovanii kariesogennoi situatsii.

A cariogenic situation was modeled by soft acidification by hydrochloric acid in vitro in mixed salivary pool of 10 subjects aged 16-18, and the values of pH and active concentration of sodium ions, optic density, and concentration of inorganic phosphorus were studied. Soft acidification of human mixed saliva was found to result in its structural disorders. The saliva of subjects with negligible caries was more stable to unfavorable exposure than mixed saliva of subjects with a higher CFL index. Experiments showed that pH of 6.2 is the critical value causing evident destruction of the saliva and reducing its mineralizing potential. These data may be used in studies of the molecular mechanisms of caries development.

[Role of ultraviolet radiation and vitamin D metabolism in medical care during space flights]. / Rol ultrafioletovoi radiatsii i obmena vitamina D pri meditsinskom obespechenii kosmicheskikh poletov.

Data on the development of ultraviolet (UV) deficiency in the cosmonauts are analyzed, possible ways to optimize UV radiation and alimentary stearin supply in order to prevent vitamin D deficiency and to correct the changes in phosphorous-calcium metabolism are discussed.

[A method for the early diagnosis of caries]. / Sposob rannei diagnostiki kariesa.

A method is offered to detect early enamel demineralization prior to formation of caries area which can be stained with methylene blue. The technique is based upon the detection, under the caries-eliciting superficial layer as determined after J. L. Hardwick and E. B. Manly (1952), the demineralized enamel requiring hygienic control or remineralization therapy.

[Measurement of the temperature of deep-seated tissues in healthy men during hypokinesia]. / Issledovanie glubinnykh temperatur tkanei zdorovogo cheloveka v usloviiakh gipokinezii.

During a head-down tilt (-5 degrees) study, in which 10 healthy male subjects took part, their body temperature variations were investigated. Skin temperature was measured using and electrothermometer with a point sensor-thermistor and core temperature was measured using a radiothermometer at the wavelength 20 cm. The study showed that the distribution profile of core temperature was close to that of skin temperature: the lowest temperatures were characteristic of the limbs and the highest of the chest, stomach and head. During head-down tilt variations in core temperatures were different from those of skin temperature. As a result, the temperature gradient between the skin and core layers increased by bed-rest day 50. In the subjects who regularly exercised during bed rest the gradient grew because their skin temperature fell while in the subjects who did not exercise the gradient increased due to both factors, i.e. skin temperature decrease and core temperature increase.