Genetic Polymorphisms in Exon 5 and Intron 5 and 7 of Are Associated with Rheumatoid Arthritis Risk in a Hungarian Population.

Background: Rheumatoid arthritis (RA) is chronically persistent synovitis and systemic inflammation. Although multiple contributors are detected, only one is pivotal in the neonatal period: the negative selection of autoimmune naïve T-cells by the autoimmune regulator (AIRE) transcriptional factor.

Methods: Single-nucleotide polymorphisms (SNPs) in the DNA-binding site of may determine its function and expression.

[Vanishing white matter disease, a rare leukodystrophy with mutation in the EIF2B5 gene].

Background -Leukodystrophies, a heterogeneous group of brain and spinal cord disorders, often pose challenges in establishingmolecular etiology. Vanishing White Matter Disease (VWMD) is a rare subtype of leukodystrophies presenting with characteristic clinical and MRI features, nevertheless, achieving diagnostic certainty requires genetic studies. Case presentation - Our patient is a nine year old girl, who developed progressive gait difficulties at around 3-4 years of age.

Influence of Non- Strains on Chemical Characteristics and Sensory Quality of Fruit Spirit.

The use of non- yeasts for alcoholic beverage improvement and diversification has gained considerable attention in recent years. The effect of pure and mixed inocula (of , , and ) on apple mash fermentation has been determined for the production of Hungarian fruit spirit (Pálinka), with a special emphasis on the chemical, volatile, and sensory attributes. The enological parameters were followed during the fermentation process.

[The effect of multimorbidity on functional and quality of life outcomes in women with generalized osteoarthritis].

Introduction: Osteoarthritis (OA) as the most common joint disease is a major public health concern.

Aim: To investigate the effect of multimorbidity on functional and quality of life outcomes in women with generalized osteoathritis (hand and knee arthritis, GOA).

Method: In this cross-sectional study, patients according to the American College of Rheumatology (ACR) criteria for OA were invited.

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report.

Background: Congenital chloride diarrhea (CCD, OMIM 214700) is a rare autosomal recessively inherited condition characterized by watery diarrhea, hypochloremia and metabolic alkalosis. Mutations of the solute carrier family 26, member 3 (SLC26A3, OMIM 126650) gene are responsible for the disease. The gene encodes a transmembrane protein, which is essential for intestinal chloride absorption.

[Nusinersen in the treatment of spinal muscular atrophy].

Until recently, the diagnosis of spinal muscular atrophy (SMA) has been associated with severe life-long motor disability in adults and with early death in infants. The new experimental therapeutic approaches of the last few years have become more and more promising, while nusinersen was approved for the treatment of SMA in December 2016 in the USA, and in May 2017 in Hungary. Our paper presents mechanisms and clinical benefits of this new medication, and highlights some of the other therapeutic strategies still in experimental stages.

Analysis of the oligosaccharide composition in wort samples by capillary electrophoresis with laser induced fluorescence detection.

Determination of the oligosaccharide composition in different wort samples is important to monitor their change during the brewing process with different yeast types. In our work, the concentration of fermentable and non-fermentable sugars were monitored by capillary electrophoresis to observe the effect of two different types of yeasts, Saccharomyces pastorianus and Saccharomycodes ludwigii. The former first ferments the monosaccharides, then the higher sugar oligomers, such as maltose and maltotriose, to ethanol, while the latter fully ferments the monosaccharides, but ferments only very low percentages of the oligosaccharides.

dTAF10- and dTAF10b-Containing Complexes Are Required for Ecdysone-Driven Larval-Pupal Morphogenesis in Drosophila melanogaster.

In eukaryotes the TFIID complex is required for preinitiation complex assembly which positions RNA polymerase II around transcription start sites. On the other hand, histone acetyltransferase complexes including SAGA and ATAC, modulate transcription at several steps through modification of specific core histone residues. In this study we investigated the function of Drosophila melanogaster proteins TAF10 and TAF10b, which are subunits of dTFIID and dSAGA, respectively.

[The receptorial responsiveness method (RRM): a new possibility to estimate the concentration of pharmacologic agonists at their receptors].

Cardiovascular disease is the biggest challenge in terms of life expectancy in developed countries. Adenosine contributes to the adaptation of the heart to ischemia and hypoxia, because adenosine, in addition to its metabolite role in the nucleic acid metabolism, is the endogenous agonist of the ubiquitous adenosine receptor family. Adenosine receptor activation is beneficial in most cases, it improves the balance between energy supply and consumption, reduces injury caused by stressors and inhibits the unfavorable tissue remodeling.

The guinea pig atrial A1 adenosine receptor reserve for the direct negative inotropic effect of adenosine.

Although the A1 adenosine receptor (A1 receptor), the main adenosine receptor type in cardiac muscle, is involved in powerful cardioprotective processes such as ischemic preconditioning, the atrial A1 receptor reserve has not yet been quantified for the direct negative inotropic effect of adenosine. In the present study, adenosine concentration-effect (E/c) curves were constructed before and after pretreatment with FSCPX (8-cyclopentyl-N3-[3-(4-(fluorosulfonyl)benzoyloxy)propyl]-N1-propylxanthine), an irreversible A1 receptor antagonist, in isolated guinea pig atria. To prevent the intracellular elimination of the administered adenosine, NBTI (S-(2-hydroxy-5-nitrobenzyl)-6-thioinosine), a nucleoside transport inhibitor, was used.

The surmountable effect of FSCPX, an irreversible A(1) adenosine receptor antagonist, on the negative inotropic action of A(1) adenosine receptor full agonists in isolated guinea pig left atria.

A1 adenosine receptors (A1 receptors) are widely expressed in mammalian tissues; therefore attaining proper tissue selectivity is a cornerstone of drug development. The fact that partial agonists chiefly act on tissues with great receptor reserve can be exploited to achieve an appropriate degree of tissue selectivity. To the best of our knowledge, the A1 receptor reserve has not been yet quantified for the atrial contractility.

The possible role of factor C in common scab disease development.

The Gram-positive soil-borne streptomycetes exhibit a complex life cycle that is controlled by extracellular regulatory molecules. One interesting autoregulator is the protein factor C, originally isolated from the culture fluid of S. albidoflavus 45H.

Streptomyces griseus 45H, a producer of the extracellular autoregulator protein factor C, is a member of the species Streptomyces albidoflavus.

Streptomyces griseus strain 45H, isolated in 1960 during a mutagenesis programme on the industrial streptomycin producer S. griseus 52-1, encodes an extracellular, pleiotropic autoregulatory signalling protein, factor C, which stimulates sporulation of S. griseus 52-1 in submerged culture.

Genetic polymorphisms of NOD1 and IL-8, but not polymorphisms of TLR4 genes, are associated with Helicobacter pylori-induced duodenal ulcer and gastritis.

Background: Intracellular pathogen receptor NOD1 is involved in the epithelial cell sensing Helicobacter pylori, which results in a considerable interleukin (IL)-8 production. The aim of this study was to evaluate the relationship between NOD1 and IL-8 genetic polymorphisms and the development of H. pylori-induced gastritis and duodenal ulcer (DU), as compared with TLR4 polymorphisms.

Effect of beta-carotene supplementation on plasma and yolk IgY levels induced by NDV vaccination in Japanese quail.

Newly hatched Japanese quail (Coturnix coturnix japonica) chicks were fed diets containing different levels of retinoids (vitamin A) or beta-carotene. Group A received a commercial diet containing 10,000 IU vitamin A per kilogram. The diets of Groups B, C, and D contained no vitamin A but were supplemented with 1-, 2.