[Nutrition and orphan diseases].

Diagnosis and treatment of orphan (rare) diseases is an important problem of modern pediatrics due to multivarious clinical signs and severe course of this pathology. Orphan diseases are associated with accumulation, absence or insufficient synthesis of one or several metabolites in the organism. The absence of early diagnostics and treatment of patients with such diseases leads to bad prognosis. A diet is the main treatment method of many orphan diseases. A diet must be personalized and base on thorough examination of nutritional status. Individual diet therapy promotes an improvement of patient`s status and enhances an effect of other forms of treatment for compensation of metabolic disorders, decrease of complication risk and increase of life quality. The article summarizes the experience of treatment of children with orphan diseases in the Department of Pediatric Gastroenterology, Hepatology and Nutrition of Federal Research Centre for Nutrition, Biotechnology and Food Safety. 444 patients with inherited disorders of carbohydrate metabolism, lipid metabolism and more rare diseases (tyrosinemia, lysosomal acid lipase deficit, fructosemia, urea cycle disturbances, α1-antitrypsine insufficiency etc.) have been evaluated in the Department since 2008. The results of the examination and treatment of children with glycogen storage diseases (n=131), fructosemia (n=18), inherited disturbances of lipid metabolism (n=118) and other rare diseases are represented in the paper. The monitoring of nutritional status can help to correct therapy depending on character and severity of pathological process for benign course of the disease.

[The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene]. / Tretii sluchai sindroma pervichnogo al'dosteronizma, sudorog i nevrologicheskikh narushenii (PASNA), obuslovlennogo variantom mutatsii de novo v gene CACNA1D.

Germline mutations in CACNA1D cause the primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome (OMIM# 615474) characterized by primary aldosteronism, seizures and neurological abnormalities. The authors present a case-report of a 1-year 3-month male patient with neurological symptoms such as seizures and global developmental delay with primary hyperaldosteronism. The heterozygosis disease-causing variant c.776T>A in CACNA1D gene was identified.

Time-course of pathogen induced accumulation of callose as mechanical protective barrier in wheat seedlings.

Results of fluorescence microscopic research and quantitative luminescent analysis of pathogen induced callose accumulation in winter wheat seedlings of two cultivars different in resistance to eye spot causal agent are presented. Higher content of constitutive callose in intact seedlings of unsusceptible cultivar at the initial stages of vegetation was determined. It correlates with resistance of this cultivar to the eye spot causal agent. The increased pathogen induced accumulation of callose in seedlings of susceptible cultivar is revealed, but didn't influence it protection against pathogen.

Effect of hydroxychloroquine and characterization of autophagy in a mouse model of endometriosis.

In endometriosis, the increased survival potential of shed endometrial cells (which normally undergo anoikis) is suggested to promote lesion development. One mechanism that may alter anoikis is autophagy. Using an autophagic flux inhibitor hydroxychloroquine (HCQ), we identified that it reduces the in vitro survival capacity of human endometriotic and endometrial T-HESC cells. We also identified that HCQ could decrease lesion numbers and disrupt lesion histopathology, as well as increase the levels of peritoneal macrophages and the IP-10 (10 kDa interferon-γ-induced protein) chemokine in a mouse model of endometriosis. We noted that RNA levels of a subset of autophagic markers were reduced in lesions relative to uterine horns from endometriosis-induced (untreated) mice. In addition, the RNA levels of autophagic markers were decreased in uterine horns of endometriosis-induced mice compared with those from controls. However, we noted that protein expression of LC3B (microtubule-associated protein 1 light-chain 3ß; an autophagic marker) was increased in uterine horns of endometriosis-induced mice compared with uterine horns of controls. By immunohistochemical staining of a human endometriosis-focused tissue microarray, we observed LC3B expression predominantly in epithelial relative to stromal cells in both eutopic and ectopic endometria. Via transmission electron microscopy, cells from eutopic endometria of endometriosis-induced mice contained more lipid droplets (rather than autophagosomes) compared with uterine horns from controls. Collectively, our findings indicate that the autophagic pathway is dysregulated in both ectopic and eutopic endometrium in a murine model of endometriosis and that HCQ has potential as a therapeutic agent for women afflicted with endometriosis.

Biochemical and Molecular Phylogenetic Study of Agriculturally Useful Association of a Nitrogen-Fixing Cyanobacterium and Nodule Sinorhizobium with Medicago sativa L.

Seed inoculation with bacterial consortium was found to increase legume yield, providing a higher growth than the standard nitrogen treatment methods. Alfalfa plants were inoculated by mono- and binary compositions of nitrogen-fixing microorganisms. Their physiological and biochemical properties were estimated. Inoculation by microbial consortium of Sinorhizobium meliloti T17 together with a new cyanobacterial isolate Nostoc PTV was more efficient than the single-rhizobium strain inoculation. This treatment provides an intensification of the processes of biological nitrogen fixation by rhizobia bacteria in the root nodules and an intensification of plant photosynthesis. Inoculation by bacterial consortium stimulates growth of plant mass and rhizogenesis and leads to increased productivity of alfalfa and to improving the amino acid composition of plant leaves. The full nucleotide sequence of the rRNA gene cluster and partial sequence of the dinitrogenase reductase (nifH) gene of Nostoc PTV were deposited to GenBank (JQ259185.1, JQ259186.1). Comparison of these gene sequences of Nostoc PTV with all sequences present at the GenBank shows that this cyanobacterial strain does not have 100% identity with any organisms investigated previously. Phylogenetic analysis showed that this cyanobacterium clustered with high credibility values with Nostoc muscorum.

RESPONSE OF PHENOLIC METABOLISM INDUCED BY ALUMINIUM TOXICITY IN FAGOPYRUM ESCULENTUM MOENCH. PLANTS.

Buckwheat genus (Fagopyrum Mill.) is one of the aluminium tolerant taxonomic units of plants. The aim of the study was an evaluation of the aluminium (50 µM effect on phenolic accumulation in various parts of buckwheat plants (Fagopyrum esculentum Moench). Detection of increasing of total phenolic content, changes in flavonoid and anthocyanin content and phenylalanine ammonia-lyase activity (PAL) were revealed over a period of 10 days of exposure to aluminium. The most significant effects of aluminium treatment on phenolic compounds accumulation were total phenolic content increasing (by 27.2%) and PAL activity rising by 2.5 times observed in leaves tissues. Received data could be helpful to understand the aluminium tolerance principles and relationships of phenolic compounds to aluminium phytotoxicity.

[Phytotoxicity of colloidal solutions of metal-containing nanoparticles].

Phytotoxicity of colloidal solutions of metal-containing nanoparticles (Ag, Cu, Fe, Zn, Mn) has been investigated using a standard Allium cepa (L.) test system. Toxicity of experimental solutions at the organism level was evaluated in terms of biomass growth of onion roots, and cytotoxicity was estimated by the mitotic index of root meristem cells. The colloidal solutions of metal nanoparticles inhibited the growth of Allium cepa (L.) roots due to their ability to penetrate into cells and interact with their components, and thus to inhibit mitosis. According to our results cytotoxicity of test solutions decreases in the following order: Cu > or = Zn > Ag > or = Fe. Solution of Mn-containing nanoparticles revealed physiological activity according to root growth reaction.

[Glycolipid changes in tissues of wheat leaves induced by exogenous hydrogen peroxide].

The results of the study of H2O2 treatment of wheat leaf glycolipid composition are presented. The fraction changes depended upon H2O2 concentration, way of treatment and exposition. The most typical reaction was galactolipid (MGDG, DGDG) content increase while lower sulpholipid variations at low doses of the root treatment and at leaf spraying.

[Adaptive changes of chloroplast membrane lipid components under environmental factors]. / Adaptatsiini zminy lipidnykh komponentiv membran khloroplastiv za diï na roslyny faktoriv dovkillia.

Review deals with some modern views of the membrane chloroplast lipid composition role in low-, high temperature and water stress adaptive reactions. It is shown that the transformed changes in membrane lipid composition determined the biochemical adaptive process due homeostasis support and preservation of the lipid bilayer fluidity, being necessary for their normal functioning in the changed environmental conditions. The aspects of long-term and short-term adaptive reactions in protein/lipid membrane complexes is discussed. The lipid sensor functions at genetically regulation of adaptive mechanisms is considered.

Sulpholipid reflects plant resistance to stress-factor action.

The results of studying the behaviour of sulphoquinovosyldiacylglycerol (SQDG) during environmental-factor action are discussed. Low-temperature action caused SQDG accumulation in 1-year-old shoot bark of resistant apple varieties, and was especially striking in the Siberia apple, a variety of extreme hardiness. Another unfavourable factor, high temperature, induced SQDG accumulation in leaves and chloroplasts of drought-resistant plants while in sensitive plants a decrease in its content took place. Water deficit caused the same effect. SQDG increase was also observed in field experiments with artificial irrigation in the drought region of Ukraine, at the stages of stooling and milk ripeness. Besides, SQDG accumulation was observed in wheat plants infected by Puccinia graminis and kidney bean plants infected by tobacco mosaic and potato x viruses. But lead supplied at various concentrations caused an SQDG decrease in wheat seedling leaves and roots. The reasons for these phenomena seemed to be mainly the stabilization of the photosynthetic processes, particularly ATP synthesis and light-harvesting complex II functioning, but signal function also cannot be excluded.

[Effect of drought on the content of polar lipids and sterols in wheat leaves]. / Vply posukhy na vmist poliarnykh lipidiv ta steryniv u lystkakh pshenytsi.

Composition of lipids and sterols in leaf tissues of winter wheat varieties with different drought resistance was investigated under the heat and water deficit. The data obtained have shown that the water deficit induced accumulation of sulpholipids and sitosterol accompanied by a decrease of stigmasterol in resistant plants. A decrease of monogalactosyldiacylglycerol, sulpholipid, phosphatidyl choline and sitosterol was observed against an increase of the stigmasterol content in the sensitive plants. The action of high temperature induced accumulation of sulpholipid, phosphatidyl glycerol, sitosterol and cholesterol accompanied by a decrease of campasterol and stigmasterol in a resistant variety. A sensitive variety was characterized by a decrease of sulpholipid and sitosterol.