A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.

BACKGROUND: Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, redundant, inelastic and wrinkled skin. Patients develop a prematurely aged appearance. Inheritance can be autosomal dominant or autosomal recessive. The X-linked form is now classified in the group of copper transport diseases. Autosomal dominant CL is characterized by wrinkled, redundant and sagging, inelastic skin and in some cases is associated with internal organ involvement. CASE PRESENTATION: We report a familial case of autosomal dominant CL, which includes a 33-year-old woman and her 11-year-old son with dry, thin and wrinkled skin that appeared prematurely aged. No serious involvement of internal organs was found. In both patients, we identified novel heterozygous mutation c.2323delG (p.Ala775fs) in exon 34 of elastin transcript NM_001278939.1. Similar frameshift mutations in the last exons of elastin gene were previously reported in patients with autosomal dominant CL. CONCLUSIONS: Our results show a novel frameshift mutation that was found in patients with cutis laxa. Exome sequencing is effective and useful technology for properly diagnosis of diseases with similar phenotype to ensure proper treatment is provided.

Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation.

We report a Russian patient with atypical onset of infantile nephropathic cystinosis. The disease debuted with vomiting and loss of weight and motor skills. Nephropathic changes appeared 6 months after onset of disease. Exome sequencing can be useful for diagnosing cystinosis in patients with neurological abnormalities before onset of nephropathic symptoms.

[The efficiency of antiviral therapy in patients with chronic -hepatitis C infected with hepatitis C virus recombinants].

The review gives the data available in the literature in the efficiency of treatment in patients with chronic hepatitis C infected with hepatitis C virus.(HCV) recombinants, by applying various antiviral therapy regimens. The low efficiency of treatment with- pegylated interferons (PEG IFN) + ribavirin (RIB) and sofosburin (SOF) +RIB in this patient group (a sustained virologic response was achieved in 22 and 30.7%, respectively) compared with the efficiency of treatment (87-97 and 83-97%, respectively) inpatients infected with HCV genotype 2 does not allow the 2015 EASL HCV genotype 2 treatment regimens to be used in. such patients. In this connection, subtyping genotype 2 isolates by NS5B sequencing should be introduced into clinical laboratory practice to successfully detect recombinant HCVs and to enhance the efficiency of antiviral therapy.

[Analysis of ineffective antiviral therapy with pegylated interferon and ribavirin in a patient with chronic hepatitis C infected with HCV genotype 2].

The paper describes a case of ineffective dual antiviral therapy (pegylated interferon and ribavirin) in a patient with chronic hepatitis C infected with hepatitis C virus (HCV) genotype 2 according to the data from the use of a commercial test system. Analysis of the predictors of failure of antiviral therapy (AVT) (the HCV recombinant variant RF2k/1b, a high viral load before the start of therapy, an unfavorable IL-28B genotype, a high body mass index, and a need for a lower ribavirin dose after 12 weeks of AVT because of adverse reactions for less than 4 weeks) in this patient has shown that no virological response is mainly associated with the presence of the HCV recombinant variant, the treatment effectiveness of which is comparable with that in HCV genotype 1 and obesity. In this connection, when HCV genotype 2 is identified, sequencing the NS5B region of the HCV genome is additionally recommended to rule out the virus recombinant strain and, if it is detected, highly effective interferon-free therapy with direct-acting antivirals is indicated.

Climatic, Edaphic Factors and Cropping History Help Predict Click Beetle (Coleoptera: Elateridae) (Agriotes spp.) Abundance.

It is assumed that the abundance of Agriotes wireworms (Coleoptera: Elateridae) is affected by agro-ecological factors such as climatic and edaphic factors and the crop/previous crop grown at the sites investigated. The aim of this study, conducted in three different geographic counties in Croatia from 2007 to 2009, was to determine the factors that influence the abundance of adult click beetle of the species Agriotes brevis Cand., Agriotes lineatus (L.), Agriotes obscurus (L.), Agriotes sputator (L.), and Agriotes ustulatus Schall. The mean annual air temperature, total rainfall, percentage of coarse and fine sand, coarse and fine silt and clay, the soil pH, and humus were investigated as potential factors that may influence abundance. Adult click beetle emergence was monitored using sex pheromone traps (YATLORf and VARb3). Exploratory data analysis was preformed via regression tree models and regional differences in Agriotes species' abundance were predicted based on the agro-ecological factors measured. It was found that the best overall predictor of A. brevis abundance was the previous crop grown. Conversely, the best predictor of A. lineatus abundance was the current crop being grown and the percentage of humus. The best predictor of A. obscurus abundance was soil pH in KCl. The best predictor of A. sputator abundance was rainfall. Finally, the best predictors of A. ustulatus abundance were soil pH in KCl and humus. These results may be useful in regional pest control programs or for predicting future outbreaks of these species.

[The burden of viral hepatitis in the Russian Federation requires reducing its progression for the long term, including chronic hepatitis C)].

AIM: To evaluate the impact of using the innovative antiviral drugs in patients with chronic hepatitis C (CHC) on the disease burden in the long term. MATERIALS AND METHODS: A program was developed to increase the availability of innovative antiviral therapy (AVT) in patients with CHC covering the period from 2013 to 2020. To evaluate the impact of the program on the burden of hepatitis C (HC) in the Russian Federation, a Markov model of the disease progression was developed till 2030. Calculations were made in medical and social perspectives. RESULTS: The implementation of the program will allow to decrease the medical costs by RBL 2 billion and budget costs, including disability payments, by RBL 3.8 billion by 2030. During this period, in GDP losses will decrease by RBL 1.1 trillion and the total burden of HC taking into account the cost of the program by RBL 1 trillion. CONCLUSION: For the first time it was shown that the expanding coverage of CHC patients with innovative AVT will allow to reduce the costs of health and social services.

Comparison of nanostructured titania matrices obtained by carbon template and sol-gel methods for controlled release of fluoxetine.

Two types of titania matrix were investigated as a support for the prolonged drug delivery of the antidepressant fluoxetine. Sample MT was synthesized using carbon template and consisted of titania microtubes on which then fluoxetine was adsorbed. Sample SG was synthesized by the sol-gel method when the drug was added during the reaction. The morphology of the powder surfaces was found to be different: nanotubes versus almost spherical particles with much larger surface area of SG and smaller pores. The relative degrees of hydroxyl coverage of the surface were studied by FTIR-spectroscopy and were found to be much larger for the sol-gel complex. Theoretical modeling was applied to consider possible interactions between the drug and the matrices. The liberation of the drug was proved to be faster from complex MT and was attributed to weaker drug-matrix interactions in combination with larger pore size.

Influence of water/alkoxide ratio in the synthesis of nanosized sol-gel titania on the release of phenytoin.

The sol-gel method was used to synthesize inorganic reservoirs with encapsulated antiepileptic drug phenytoin. The drug release profile was shown to depend on the morphology and surface properties of the matrix. A parameter of the synthesis such as water/alkoxide ratio r(w) was varied in order to investigate its influence on the matrix properties and as a result on the drug release profile. It was found that the specific surface area and crystallization degree decrease with an increase of r(w), whereas the hydroxyl group coverage increases with an increase of r(w). Drug release kinetics studies revealed that the initial release rate increases with an increase of water content in the reaction, whereas the long time release rate first slightly increases with an increase of water content from 4 to 8 and then decreases for r(w) = 16. The interplay of different parameters of the matrix is shown to be responsible for such a dependence and is discussed in the Article.

[Modern antidepressants in complex management of patients with hypertension and concomitant affective disorders]. / Sovremennye antidepressanty v kompleksnom lechenii bol'nykh s arterial'noi gipertenziei s soputstvuiushchimi affektivnymi rasstroistvami.

According to results of multiple studies depression and anxiety are found in more than 50% of patients with hypertension. Presence of affective disorders elevates risk of progression of hypertension. That is why complex therapy comprising antihypertensive drugs from various groups and antidepressants takes on higher and higher significance. Modern antidepressants produce no substantial cardiotoxic effects. Combination of an antihypertensive drug (angiotensin converting enzyme inhibitor captopril or beta-adrenoblocker metoprolol) with an antidepressant affects favorably clinical course of hypertension, 24-hour blood pressure profile, characteristics of intracardiac hemodynamics, structural and geometric left ventricular parameters, allows to achieve sufficient antihypertensive effect with acceptable tolerability.

[Effect of the growth conditions for the inoculum on cephalosporin biosynthesis]. / Vliianie uslovii vyrashchivaniia posevnogo materiala na biosintez tsefalosporina.

It was shown that intensification of cephalosporin biosynthesis is possible with the use of the inoculum grown on the seed medium enriched with the sources of carbon and organic nitrogen. The inoculum grown on the initial medium is usually added to the fermentation medium by the 31st-33rd hour of the growth, while with the use of the enriched medium it is added to the fermentation medium by the 36th-38th hour. The intensity of the culture respiration is recommended to be used as a technological parameter for estimation of the time when the inoculum may be added to the fermentation medium.