Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings.

We present a family with two male siblings diagnosed with a newly described digenic myopathy, involving likely pathogenic loss-of-function variants in the SRPK3 and TTN genes: hemizygous p.(Pro68ArgfsTer55) and heterozygous p.(Trp14174Ter), respectively.

Prevalence of Viral Hepatitis B, C, and D in Kazakhstan.

Background: Viral hepatitis is a major burden for the healthcare system worldwide. Up to date, a comprehensive analysis of the prevalence of viral hepatitis in Kazakhstan and Central Asia has not been carried out yet. Our epidemiological study aimed at investigating the frequency and spread of viral hepatitis B, C, and D depending on age and sex in Kazakhstan (5-year period).

[Role of IL-17A and neutrophilic granulocytes in the pathogenesis of psoriasis].

Objective: To study the expression of IL-17A in the inflammatory infiltrating cells in the plaques as one of the key points in the pathological process in moderate to severe psoriasis.

Material And Methods: The material obtained from 50 patients with moderate and severe psoriasis was examined by an indirect immunofluorescence assay to determine the composition of cell infiltrate and the type of IL-17A-producing cells in the foci of lesion. The markers of lymphocytes (CD3), dendritic cells (CD11c), neutrophilic granulocytes (Mpo), and mast cells (Trp) were used.

[Trichilemmal carcinoma in a patient with squamous cell skin cancer].

Trichilemmal carcinoma is a rare skin tumor that mainly occurs in the elderly (mean age, 71 years) and is localized in the repeatedly sun-exposed areas, most commonly on the face, scalp, neck, and dorsa of the hands. Its differential diagnosis is made with squamous cell skin cancer, clear-cell porocarcinoma, hidradenocarcinoma, and melanoma. The prognosis of trichilemmal carcinoma is most favorable than that of other skin tumors during radical removal.

[Current approaches to the morphologic diagnosis of different types of congenital epidermolysis bullosa].

Unlabelled: Congenital epidermolysis bullosa (CEB) is an extensive group of hereditary skin diseases, the differential diagnosis of which is a challenge due to the rarity of this pathology and the diversity of its clinical manifestations. The determination of the type of CEB makes it possible to estimate its prognosis and to facilitate a prenatal diagnosis.

Aim: to optimize the morphological diagnosis of different types of CEB.

[Role of the skin expression of neuropeptides, neurotrophins and their receptors in the pathogenesis of dermatoses].

Objective: to define the role of neurotransmitters and their receptors in the development of itch and in the maintenance of a skin inflammatory response in patients with psoriasis and atopic dermatitis.

Material And Methods: Skin biopsy specimens from 30 patients with psoriasis and 30 patients with atopic dermatitis were investigated by histological, immunoperoxidase, and indirect immunofluorescence assays. The investigators determined the expression of protein gene product 9.

[Polymorphism of intron 2 of the SDF1 gene in Galloway, Hereford, and Russian Black Pied cattle].

The region of intron 2 of the SDF1 gene encoding a chemokine of the CXC subfamily has been resequenced in Galloway, Hereford, and Black Pied cattle. Five of the single-nucleotide polymorphisms (SNPs) that were earlier detected by other authors in various breeds of cattle in North America (99C/G, 128T/C, 206C/T, 267C/G and 313C/T) have been found. The 270insC polymorphic marker has proved to be monomorphic in Russian cattle breeds.

[Inhalational antibacterial therapy for an exacerbation of chronic obstructive pulmonary disease].

The clinical efficiency of inhalational antibacterial therapy for Stage II chronic obstructive pulmonary disease (COPD) was evaluated in 100 patients who had been randomized to an inhalational fusafungine group (n = 50) and a systemic (per os or parenteral) antibiotics group (n = 50). Inhalational antibacterial therapy for exacerbations of Stage II COPD was found to be as effective as systemic use of antibiotics. Moreover, side effects of inhalational therapy were much less pronounced.

Pressure tuning of magnetic interactions in layered (La0.6Nd0.4)1. 2Sr1.8Mn2O7 manganite.

The effect of pressure of up to 9 GPa on the magnetic and structural properties of layered (La0.6Nd0.4)1.

[Oxidation of dibenzofuran by Pseudomonas strains harboring plasmids of naphthalene degradation].

Pseudomonas strains harboring plasmids pBS3, pBS4, NAH7 were shown to carry out initial transformation of dibenzofurane to 4-[2'-(3'-hydroxy)-benzofuranyl]-2-keto-3-butenic acid due to broad substrate specificity of the enzymes of naphthalene catabolism nahA, nahB, nahC and nahD. These strains did not grow on dibenzofurane because of the inability of the enzyme nahE to split pyruvate of 4-[2'-(3' hydroxy)-benzofuranyl]-2-keto-3-butenic acid, which leads to accumulation of the latter. The strains harboring plasmids pBS2 and NPL-1 are not capable of any transformation of dibenzofurane.

[The primary stages of alpha-methylstyrene degradation by a culture of Pseudomonas aeruginosa 8].

The transient products have been characterized of alpha-methylstyrene (AMS) degradation by P. aeruginosa st. 8 which utilizes AMS in high concentrations (2-10 g/l) as the only source of carbon and energy.

[Catabolism of biphenyl by Pseudomonas putida BS 893 strain containing the biodegradation plasmid pBS241].

The isolation and identification of biphenyl catabolism products in Pseudomonas putida BS 893 (pBS241) showed the presence of benzoic, m-hydroxybenzoic and cinnamic acids. The two latter compounds were not found in biphenyl degradation by other bacterial strains. P.