Different clinical presentation of the hyperimmunoglobulin D syndrome (HIDS) (four cases from Turkey)

PubMedID: 22246419Hyperimmunoglobulin D syndrome (HIDS) is one of the autoinflammatory syndromes which are characterized by febrile attacks. Duration and frequency of the febrile attacks, as well as typical organ involvements vary greatly. Recently, it is possible to reach more reliable data by the possibilities that are opened up by molecular genetics in order to highlight the aetiopathogenesis of this group of diseases. Typical patients with HIDS have an onset of disease in the first year of life. Here, we report four Turkish HIDS cases; three of whom, the symptoms started at a later age. The diagnoses were made by relevant clinical symptoms along with MVK mutations detected by DNA sequencing method. As summarised in this article, HIDS could be presented with a broad spectrum of symptoms. Although most of the HIDS patients are reported from Europe and especially Dutch ancestry, case reports are presented from all over the world. For this reason, HIDS should be kept in mind for the differential diagnosis of periodic fever syndromes or before accepting an FMF patient as colchichine resistant. We suppose that the phenomenon of "later-onset HIDS" should shed light into unresolved clinical problems of patients with periodic fever. Especially in countries that FMF is more frequent such as Turkey, even though the symptoms start later than classic cases, HIDS should be kept in mind for differential diagnosis of periodic fever syndromes. © Clinical Rheumatology 2012

Analysis of Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) Promoter -318C/T and +49A/G Gene Polymorphisms in Turkish Patients with Familial Mediterranean Fever

PubMedID: 22923220Either the role of the adaptive immune system or the interaction between innate and adaptive immune systems in familial Mediterranean fever (FMF) is not clear so far. So, we planned to search for the interaction between the innate and adaptive immune systems in the pathogenesis of FMF by investigating polymorphism for CTLA-4 gene, which plays a role in controlling antigen presentation to T cells. We also aimed to investigate whether there is an association between -318C/T and +49A/G polymorphisms in the CTLA-4 gene and the main clinical features of the disease. 75 FMF patients and 179 controls were studied. Polymorphism was detected by the PCR-RFLP technique. The CT genotype and T allele frequencies of the -318C/T polymorphism and the haplotype frequency for the -318T/+49A in the CTLA-4 gene were higher in the FMF (21. 3, 21. 3, and 10. 7 %) when compared with the controls (10. 6, 10. 6, and 5. 3 %; P = 0. 029, 0. 044, and 0. 029). However, these differences did not reach a statistically significant level after the Bonferroni correction. A significant linkage disequilibrium was found between the -318C/T and +49A/G polymorphisms in the CTLA-4 gene (D' = 0. 997, r2 = 0. 027, P = 0. 0002). Genotype and carrier frequencies of the CTLA-4 gene +49A/G polymorphism were not significantly different between FMF patients and healthy controls. No association was found between the studied polymorphisms and the main clinical features of the disease. Our findings suggest that although not statistically significant, higher frequencies of CTLA-4 gene -318CT genotype, T allele, and -318T/+49A haplotype in FMF patients may be related to the non-autoimmune pathogenesis of FMF. © 2012 Springer Science+Business Media, LLC.Firat University Scientific Research Projects Management Unit: TF2004BAP3Acknowledgments This work was supported by a grant from the Cukurova University Scientific Research Projects Unit, Adana, Turkey (Project Nr: TF2004BAP3)

ANTIOXIDANT ACTIVITY OF PROBIOTIC YOGHURT FORTIFIED WITH MILK PROTEIN BASED INGREDIENTS

WOS: 000316617400008The effect of the fortification with sodium calcium caseinate (SCC) and whey protein concentrate (WPC) on antioxidant activity of probiotic yoghurt, containing Bifidobacterium lactis Bb12, was investigated. Probiotic yoghurt fortified with WPC had a higher DPPH center dot (2,2,-diphenyl-1-picrylhydrazyl) radical-scavenging activity when compared to that fortified with SCC. In Fe2+ chelating activity method, probiotic yoghurts fortified with SCC and a blend of SCC-WPC showed greatest chelating activity by 30 and 60 min. There were no significant differences in the H2O2 scavenging activity among samples except control yoghurt, which showed the lowest activity, at a concentration of 0.2 g/mL.Turkish Scientific and Research Council (TUBITAK)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [TOVAG 106 O 122]The authors thank the Turkish Scientific and Research Council (TUBITAK) for the financial support for this research (Project No: TOVAG 106 O 122)

INVESTIGATION OF TNFRSF1A (TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A) GENE POLYMORPHISMS IN BEHCET'S DISEASE

Annual European Congress of Rheumatology (EULAR) -- JUN 12-15, 2013 -- Madrid, SPAINWOS: 000331587904421

KIR GENE DISTRIBUTION IN TURKISH PATIENTS WITH RHEUMATOID ARTHRITIS

WOS: 000432474100200

Influence of a vegetable fat blend on the texture, microstructure and sensory properties of kashar cheese

WOS: 000291838000004The possibility of using a commercial vegetable fat blend in Kashar cheese was investigated. Kashar cheeses were manufactured by replacing the milk fat (MF) with a vegetable fat (VF) blend. Kashar cheeses from whole milk were also manufactured to compare textural, microstructural, meltability, color and sensory characteristics during a ripening period of 90 days. The use of vegetable fat decreased the meltability, hardness, cohesiveness, gumminess and chewiness of the cheese; while increasing adhesiveness where springiness was not affected. Differences became less notable toward the end of ripening. Scanning electron micrographs displayed VF cheese with a compact network with small and uniform fat globules embedded in the protein matrix. The MF cheese exhibited an open protein matrix containing milk fat globules of various sizes and forms. The color analysis demonstrated significant differences between cheeses. Finally, all sensory characteristics of the cheese were affected by the vegetable fat blend

Early suppression of familial Mediterranean fever attacks by single medium dose methyl-prednisolone infusion

PubMedID: 18313967[No abstract available