[Effect of low-intensity laser-therapy in the correction of encephalopathy in obstructive jaundice].

Unlabelled: Hepatic encephalopathy is an early and severe complication of obstructive jaundice and is characterized by occurrence of non-focal and focal neurological manifestations. Different methods of therapy are applied for disorder correction. Low-intensity laser blood irradiation has a pronounced antioxidant and vasoactive effect.

Biological Activity of Hexaazaisowurtzitane Derivatives.

Biologically active compounds of natural or synthetic origin have a complex structure and generally contain various structural groups among which polycyclic cage amines are found. Hexaazaisowurtzitanes are representatives of these amines and studies on their biological activity began less than two decades ago, starting with research on the environmental impact of CL-20. This research helped to evaluate the risks of potential pollution in the habitat environments of living organisms and determine whether the chemical compounds in question could be utilized in pesticides, herbicides, fungicides, or medicinal drugs.

Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice.

Here, we report the pediatric cases of sitosterolemia, a rare autosomal-recessive genetic disorder, characterized by high concentrations of plant sterols in blood and heterogeneity manifestations. All three patients (two girls aged 2 and 6 years old, and one boy aged 14 years old) were initially diagnosed with hypercholesterinemia. Next-generation sequencing (NGS) revealed homozygous (p.

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.

Alagille syndrome (ALGS) is a multisystem condition characterized by cholestasis and bile duct paucity on liver biopsy and variable involvement of the heart, skeleton, eyes, kidneys, and face and caused by pathogenic variants in the or gene. The variable expressivity of the clinical phenotype and the lack of genotype-phenotype correlations lead to significant diagnostic difficulties. Here we present an analysis of 18 patients with cholestasis who were diagnosed with ALGS.

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (), and Liver Transplantation.

The congenital disorder of glycosylation type IIs (ATP6AP1-CDG; OMIM# 300972) is a rare X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Here, we examine the case of a 1-year-old male patient of Buryat origin, who presented with liver dysfunction. At the age of 3 months, he was hospitalized with jaundice and hepatosplenomegaly.

[The effectiveness of a probiotic containing Bifidobacterium longum BB-46 and Enterococcus faecium ENCfa-68 in the treatment of post-infectious irritable bowel syndrome. Prospective randomized comparative study].

Background: In the treatment of post-infectious irritable bowel syndrome (PI-IBS), the leading role belongs to the normalization of the composition of the intestinal microbiome, the disturbances of which are associated with previous intestinal infections.

Aim: To study the effectiveness of the drug Bifiform in the treatment of PI-IBS.

Materials And Methods: An open, prospective, comparative, randomized study included 62 patients with PI-IBS.

A Clinical Case of a Homozygous Deletion in the Gene with Severe Hypertriglyceridemia.

Background: Hypertriglyceridemia (HTG) is one of the most common forms of lipid metabolism disorders. The leading clinical manifestations are pancreatitis, atherosclerotic vascular lesions, and the formation of eruptive xanthomas. The most severe type of HTG is primary (or hereditary) hypertriglyceridemia, linked to pathogenic genetic variants in LPL, APOC2, LMF1, and APOA5 genes.

[A prospective randomized comparative study of the efficacy and safety of a two-week bismuth-based quadrotherapy of infection with the inclusion of the probiotic containing Bifidobacterium longum BB-46 and ].

Aim: To study the efficacy and safety of a two-week bismuth-based quadruple of Helicobacter pylori (Hp) infection with the inclusion of a probiotic Bifiform.

Materials And Methods: An open prospective comparative randomized study included 68 Hp-positive patients: 22 with a confirmed diagnosis of peptic ulcer disease, 46 with chronic gastritis, gastroduodenitis and erosions in the pylorobulbar zone. The diagnosis and Hp infection were verified by the results of endoscopic and morphological studies, as well as using the 13C-urease breath test and determination of the Hp antigen in the feces.

Etiopathogenesis of adolescent idiopathic scoliosis: Review of the literature and new epigenetic hypothesis on altered neural crest cells migration in early embryogenesis as the key event.

Adolescent idiopathic scoliosis (AIS) affects 2-3% of children. Numerous hypotheses on etiologic/causal factors of AIS were investigated, but all failed to identify therapeutic targets and hence failed to offer a cure. Therefore, currently there are only two options to minimize morbidity of the patients suffering AIS: bracing and spinal surgery.

A novel mutation in the gene in a family from Dagestan with members affected by Zellweger spectrum disorder.

Background: Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders that affect multiple organ systems. Approximately 80% of PBD patients are classifiedin the Zellweger syndrome spectrum, which is generally caused by mutations in the , or genes.

Methods: We present the clinical characteristics of three male members with cholestatic hepatopathy and developmental delay.

Obtaining and Properties of a Photocatalytic Composite Material of the "SiO-TiO" System Based on Various Types of Silica Raw Materials.

Compositions and technology for obtaining a photocatalytic composite material (PCM) by deposition of titanium dioxide particles synthesized by the sol-gel method on a silica support of various types (microsilica, gaize and diatomite) have been developed. The properties (chemical and mineral composition, dispersion, specific surface area, porosity, ζ-potential, acid-base properties, and microstructure) of microsilica, gaize and diatomite were studied to assess the effectiveness of using a photocatalytic agent as a carrier. In terms of specific viscosity (η = 45), the concentration of the precursor (tetrabutoxytitanium-TBT) is set at 22 vol.

[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.

Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.

Unlabelled: Glycogen storage disease type 0 (GSD 0) is an autosomal recessive disorder of glycogen metabolism caused by mutations in the gene manifesting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting, and postprandial hyperglycemia and hyperlactatemia. GSD 0 is a rare form of hepatic glycogen storage disease with less than 30 reported patients in the literature so far.DNA samples of 93 Russian patients with clinical diagnoses of hepatic GSDs were collected and analyzed by next-generation sequencing custom target panel and by direct sequencing.

Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency.

Lysosomal acid lipase deficiency (LALD) is a rare genetic disease characterized by the accumulation of cholesteryl esters and triglycerides in many organs, including the liver, spleen, lymph nodes, bone marrow, and vascular endothelium. Patients with LALD can appear asymptomatic until liver failure or premature sudden death from coronary artery disease, stroke, and aneurysm, which lead to the diagnosis. Herein, we present a diagnostic workup in a young 17-year-old female patient who manifested hepatosplenomegaly, elevated liver enzymes, severe dyslipidemia, and systemic atherosclerosis.

[Biomarkers of vitamin status in obese school children].

Inadequate intake of vitamins, noted in children with obesity, reduces the immune system activity, contributes to the metabolic disorders aggravation and may result in comorbidity. of the work was to study sufficiency with vitamins and carotenoids of children with obesity. Examination of vitamin D, B, C, A, E and β-carotene status in 50 children (male 36.

A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from Russia.

Unlabelled: Laboratory diagnostics of lysosomal acid lipase deficiency (LAL-D), a rare disorder associated with alterations, are based on the evaluation of LAL activity. In dry blood spots (DBS) submitted for LAL-D diagnostics (the screening cohort) over a two-year period or obtained from a cohort of retrospective LAL-D patients, we measured: (1) LAL activity using a two-reaction assay with 4-methylumbelliferone palmitate (4-MU-Palm) and Lalistat-2, a specific LAL inactivator; (2) total lipase (TL) activity by a 1-hour kinetic 4-MU-Palm cleavage reaction (no Lalistat-2). The TL activity was expressed as the area under the kinetic curve after 1 hour (TL-AUC) of the reaction and presented as the median (min-max).

The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.

Lysosomal acid lipase deficiency (LALD; MIM#278000) is a continuum of autosomal recessive diseases caused by defects in the gene LIPA and historically divided into two phenotypes: severe infantile-onset form called Wolman disease (WD) and childhood/adult-onset form known as cholesteryl ester storage disease (CESD). We report a novel synonymous homozygous variant c.600G > A in LIPA of a patient with LALD.

Adsorption of water and n-hexane on pristine and oxidized carbon nanotube supports of cobalt-based Fischer-Tropsch catalysts.

Adsorption of model polar (water) and non-polar (n-hexane) compounds on the surface of oxidized and non-oxidized carbon nanotube (CNT) supports at different stages of Co/CNT catalyst preparation has been studied to reveal the influence of the surface functionalization of the CNT support on the catalyst selectivity in Fischer-Tropsch synthesis (FTS). Dynamic vapor sorption experiments showed that defunctionalization of the surface of the CNT support during catalyst annealing and reduction led to its hydrophobization and, as a result, no noticeable difference was observed between the adsorption properties of the oxidized and non-oxidized supports towards water and hydrocarbons. Therefore, oxidation of the CNT support does not significantly affect the adsorption properties of the supported catalyst and it is not a crucial factor for the catalyst selectivity in FTS.

A New Look at Causal Factors of Idiopathic Scoliosis: Altered Expression of Genes Controlling Chondroitin Sulfate Sulfation and Corresponding Changes in Protein Synthesis in Vertebral Body Growth Plates.

In a previous report, we demonstrated the presence of cells with a neural/glial phenotype on the concave side of the vertebral body growth plate in Idiopathic Scoliosis (IS) and proposed this phenotype alteration as the main etiological factor of IS. In the present study, we utilized the same specimens of vertebral body growth plates removed during surgery for Grade III-IV IS to analyse gene expression. We suggested that phenotype changes observed on the concave side of the vertebral body growth plate can be associated with altered expression of particular genes, which in turn compromise mechanical properties of the concave side.

[The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene].

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.

DMSO-Free Cryopreservation of Human Umbilical Cord Tissue.

Human umbilical cord represents a source of multipotent stromal cells of a supreme therapeutic potential. The cells can be isolated from either fresh or cryopreserved umbilical cord tissues. DMSO is a cryoprotectant most commonly used for preservation of umbilical cord tissues; however, cyto- and genotoxicity of this compound is evident and well documented.

Kinetics of the defunctionalization of oxidized few-layer graphene nanoflakes.

Thermal defunctionalization of oxidized jellyfish-like few-layer graphene nanoflakes was studied under non-isothermal conditions by simultaneous thermal analysis. Activation energies for thermal decomposition of different oxygen functional groups were calculated by the Kissinger method and compared with those for oxidized carbon nanotubes. Oxygen content in graphene nanoflakes was found to significantly affect the decomposition activation energies of carboxylic and keto/hydroxy acids because of their acceptor properties and strong distortion of the graphene layers at the edges of the nanoflakes.

A New Look at Etiological Factors of Idiopathic Scoliosis: Neural Crest Cells.

Idiopathic scoliosis is one of the most common disabling pathologies of children and adolescents. Etiology and pathogenesis of idiopathic scoliosis remain unknown. To study the etiology of this disease we identified the cells' phenotypes in the vertebral body growth plates in patients with idiopathic scoliosis.