Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases.

Palmoplantar keratoderma is a clinically polymorphic disorder with a heterogeneous etiology characterized by marked hyperkeratotic lesions on the surface of palms and soles. Hereditary forms of palmoplantar keratoderma usually have autosomal dominant inheritance and are caused by mutations in dozens of genes, most of which belong to the keratin family. We carried out clinical and molecular genetic analysis of the affected and healthy members of four families with autosomal dominant palmoplantar keratoderma.

[Nutritional status of preschool children of Moscow megalopolis at the beginning of the 21st century (somatometric aspects)].

Obesity is one of the most important and actual problems of public health, of healthcare, which dramatically expanded through the latest four decades. of the study was the analysis of physical conditions of Moscow preschoolers at the beginning of 21th century as the indicator of nutritional status in «obesogenic» environment of megalopolis. .

Nuclear envelope-localized torsinA-LAP1 complex regulates hepatic VLDL secretion and steatosis.

Deciphering novel pathways regulating liver lipid content has profound implications for understanding the pathophysiology of nonalcoholic fatty liver disease and nonalcoholic steatohepatitis. Recent evidence suggests that the nuclear envelope is a site of regulation of lipid metabolism but there is limited appreciation of the responsible mechanisms and molecular components within this organelle. We showed that conditional hepatocyte deletion of the inner nuclear membrane protein lamina-associated polypeptide 1 (LAP1) caused defective VLDL secretion and steatosis, including intranuclear lipid accumulation.

Towards sustainable diagnostics: replacing unstable HO by photoactive TiO in testing systems for visible and tangible diagnostics for use by blind people.

Blind and color blind people cannot use colorimetric diagnostics; the problem is especially severe in rural areas where high temperatures and the absence of electricity challenge modern diagnostics. Here we propose to replace the unstable component of a diagnostic test, HO, with stable TiO. Under UV irradiation, TiO forms reactive oxygen species that initiate polymerization of acrylamide causing liquid-to-gel transition in an analyte-dependent manner.

Liquid-to-gel transition for visual and tactile detection of biological analytes.

So far all visual and instrument-free methods have been based on a color change. However, colorimetric assays cannot be used by blind or color-blind people. Here we introduce a liquid-to-gel transition as a general output platform.

Nonequilibrium Hybridization Enables Discrimination of a Point Mutation within 5-40 °C.

Detection of point mutations and single nucleotide polymorphisms in DNA and RNA has a growing importance in biology, biotechnology, and medicine. For the application at hand, hybridization assays are often used. Traditionally, they differentiate point mutations only at elevated temperatures (>40 °C) and in narrow intervals (ΔT = 1-10 °C).

Inhibition of apolipoprotein B synthesis stimulates endoplasmic reticulum autophagy that prevents steatosis.

Inhibition of VLDL secretion reduces plasma levels of atherogenic apolipoprotein B (apoB) lipoproteins but can also cause hepatic steatosis. Approaches targeting apoB synthesis, which lies upstream of VLDL secretion, have potential to effectively reduce dyslipidemia but can also lead to hepatic accumulation of unsecreted triglycerides (TG). Here, we found that treating mice with apoB antisense oligonucleotides (ASOs) for 6 weeks decreased VLDL secretion and plasma cholesterol without causing steatosis.

[Specific features of emergency dental care in pregnant women].

The aim of the study was to evaluate the algorithm of safe emergency dental care in pregnant patients. Eighty-five pregnant women aged 20-35 were included in the study. The paper presents elaborated state-of-the-art guidelines for emergency dental care in pregnant patients.

Behavioral predispositions to approach or avoid emotional words in schizophrenia.

Many data suggest a disjunction between decreased emotional expressions and relatively preserved experience of and ability to assess emotions in schizophrenia. Based in an embodied approach of cognition, several studies have highlighted affective stimulus-response congruency effect in healthy subjects that show a direct link between the perception of emotion and associated motor responses. This study investigated whether the categorization of emotional words involves an automatic sensorimotor simulation of approach and avoidance behaviors.

Bioelectronic Interface Connecting Reversible Logic Gates Based on Enzyme and DNA Reactions.

It is believed that connecting biomolecular computation elements in complex networks of communicating molecules may eventually lead to a biocomputer that can be used for diagnostics and/or the cure of physiological and genetic disorders. Here, a bioelectronic interface based on biomolecule-modified electrodes has been designed to bridge reversible enzymatic logic gates with reversible DNA-based logic gates. The enzyme-based Fredkin gate with three input and three output signals was connected to the DNA-based Feynman gate with two input and two output signals-both representing logically reversible computing elements.

Non-obvious Problems in Clark Electrode Application at Elevated Temperature and Ways of Their Elimination.

Well-known cause of frequent failures of closed oxygen sensors is the appearance of gas bubbles in the electrolyte. The problem is traditionally associated with insufficient sealing of the sensor that is not always true. Study of a typical temperature regime of measurement system based on Clark sensor showed that spontaneous release of the gas phase is a natural effect caused by periodic warming of the sensor to a temperature of the test liquid.

[Hepatoprotectors in therapy of the alcoholic liver disease (clinical and experimental research)].

The aim of this study was a comparative evaluation of the effectiveness of hepatoprotectors (Metadoksin and Silybin) in the complex treatment of patients with alcoholic liver disease. The article presents data on the use of Metadoksin and Silybin in the treatment of alcohol steatohepatitis and liver cirrhosis alcoholic etiology of the total number of comparison groups 66 patients formed on the basis of 642 patients treated with alcoholic liver disease. Was studied dynamics of blood biochemical parameters during therapy, as well as the severity of clinical syndrome (pain, dyspeptic, asthenic) before and after treatment.

Clustered hydrophobic amino acids in amphipathic helices mediate erlin1/2 complex assembly.

Erlin1 and erlin2 are highly homologous, ∼40kDa, endoplasmic reticulum membrane proteins that assemble into a ring-shaped complex with a mass of ∼2 MDa. How this complex is formed is not understood, but appears to involve multiple interactions, including a coiled-coil region that mediates lower-order erlin assembly, and a short hydrophobic region, termed the "assembly domain", that mediates higher-order assembly into ∼2 MDa complexes. Here we have used molecular modeling, mutagenesis and cross-linking to examine the role of the assembly domain in higher-order assembly.

[Liver defect and change of tolerance to low alcohol drinks at young rats].

This study was performed to understand behavior and toxic liver defect in rats in the use of low-alcohol drinks (LAD) and energy drinks (ED). Young rats quickly become accustomed to the LAD, increased tolerance to alcohol. Rats were getting a habit, an intoxicating effect was faster than at the beginning of the LAD using.

[Somatic trends in Moscow children].

Somatic trends was considered in Moscow children in a wide age range of 3 to 17 years, by attracting several series of data since the 1990s. To have the greater informative value in data analyses, investigators use the normalized rather than absolute values of various anthropometric signs in the considered data series versus the 2005 data in the age range of 3 to 7 years and versus the 1980s data in the range of 8 to 17 years. The overall somatic tendency in Moscow children aged 3 to 17 years in past decades is towards a transverse body development and some dolichomorphism with a continuous increase in longitudinal skeletal sizes.

[Polyvirus hepatitides (prevalence, diagnosis, characteristics of virusological process)].

Aim: To ascertain prevalence of chronic hepatitides (CH) of polyvirus etiology and to characterize a course of such polyvirus CH.

Material And Methods: A total of 15000 patients with chronic diseases of the liver (CDL) of different etiology were examined for markers of hepatotropic viruses, 312 patients with CH aged 18-59 years were examined clinically, biochemically, virusologically and morphologically.

Results: CH of polyvirus etiology are rather prevalent.

Comparative analysis of age dynamics of average values of body dimensions in children from birth to 7 years.

Mean values of different body dimensions in different age cohorts of children make it possible to learn a lot about their dynamic changes. Their comparative analysis, as is usually practiced, in fact leads to a simple description of changes in measurement units (mm or cm) at the average level of some body dimension during a shorter or longer period of time. To estimate comparative intensity of the growth process of different body dimensions, the authors use the analogue of Mahalanobis distance, the so-called Kullback divergence (1967), which does not demand stability of dispersion or correlation coefficients of dimensions in compared cohorts of children.

[Molecular epidemiology of HIV-infection in drug addicts of Southern Ural].

The analysis of HIV-1 variants circulating among drug addicts in 16 settlements of the Sverdlov, Chelyabinsk and Orenburg regions (72, 90 and 42 patients respectively) was carried out. As shown by the serological analysis, the spread of HIV-1 variant IDU-A among the drug addicts in this area continued in this area and could be detected in 99.5% of the samples (203 out of 204 samples).

[Development of HIV infection epidemic among intravenous drug users in the Sverdlovsky region].

The Sverdlovsky region takes the fourth place among the 89 subjects of the Russian Federation by the number of registered cases of HIV infection. Drug addiction has reached an excessive scale in this region: according to the data of express evaluation carried out by the Regional Narcological Hospital and the Regional AIDS Center, not less than 7-8% of persons aged 15-30 years constantly use injection drugs. The large-scale epidemic of injection drug addiction has led to the rapid spread of HIV among addicts.

The Prognosis of Survival in Patients with Some Solid Tumors Based on Optimal Partitions of Immunological Parameter Ranges.

New logical and statistical methods were used for the analysis of relationships between survival rate of solid tumor patients and immunological variables. These methods are based on the search of the regularities (syndromes) in the multidimensional space. The syndromes are the elements of partitions of allowable areas of variables.

[Interleukins in chronic viral hepatitis].

Aim: To estimate interleukines levels in chronic hepatitis (CH) in respect to CH etiological factor, activity and stage.

Material And Methods: Enzyme immunoassay (kits from proteinovy Kontur, St-Petersburg) determined levels of IL-1 beta, IL-4, IL-6 and TNF-alpha in the peripheral blood of 250 patients with chronic hepatitis C (CHC), B (CHB), D (CHD) and G (CHG).

Results: IL concentrations in chronic viral hepatitis depend on etiological factor (CHC, CHB, CHD, CHG), activity (high, moderate, low), stage (chronic hepatitis, cirrhosis).

[The potentials for the comprehensive diagnosis of viral encephalitis in Sverdlovsk Province].

The suggested scheme of laboratory tests helped identify the etiology of viral encephalitides in 65.9% of cases. Diagnosis of tick-borne encephalitis was confirmed by laboratory findings in 93.

[The use of myolastan in athletes with myoenthetic injuries].

Myolastan was given to 9 sportsmen with acute muscular injury and 5 with chronic one in addition to the standard treatment. Control subjects with similar acute and chronic injuries (7 and 3 patients, respectively) were not given the drug. The patients with acute injuries on myolastan resumed muscular exercise 4.