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[1] Left-lateral strike slip along the Dead Sea Fault Zone (DSFZ) between the African and Arabian plates is partitioned into a complex set of motions at its northern extension where Arabia impinges into the Anatolian collage. As a result, the nature of the contemporary link between the east Anatolian and Dead Sea transforms is unclear. To quantify strike slip motion expressed as tectonic rotations along the inferred southwest continuation of the East Anatolian Fault Zone (EAFZ), we have investigated the paleomagnetism of young (

Objectives: The purpose of this study was to determine the differences in the distribution of TNF-α (-308) gene polymorphism among aggressive periodontitis, chronic periodontitis and periodontally healthy individuals and also to investigate whether this polymorphism is associated with gingival crevicular fluid TNF-α levels and periodontal disease severity., Material and Methods: A total of 93 individuals were enrolled in the study including 38 aggressive periodontitis, 29 chronic periodontitis patients, and 26 healthy controls. Single nucleotide polymorphism at TNF-α (-308) is analyzed by PCR-RFLP method. Gingival crevicular fluid samples were analyzed for TNF-α, using ELISA., Results: The distribution of genotypes and allele frequencies for TNF-α (-308) were similar among the groups. After stratification of patients with respect to attachment level, aggressive periodontitis patients with clinical attachment level ⩾4mm was observed to have a higher frequency of TNF-α (-308) allele 2 compared to the chronic periodontitis patients with clinical attachment level ⩾4mm. No significant differences were found between the TNF-α levels of the different genotypes in spite of an insignificant increase in patient groups carrying TNF-α (-308) allele 2., Conclusion: The results of this study revealed an association between TNF-α (-308) allele 2 frequency and aggressive periodontitis patients with clinical attachment level ⩾4mm in the population studied., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

Purpose: To compare serum and tear inflammatory and anti-inflammatory cytokine levels of rosacea patients with the healthy controls and evaluate the correlation of tear cytokine levels with tear function parameters., Methods: Tear and serum interleukin (IL)-1α, IL-6, IL-8, IL-10, monocyte chemotactic protein-1 (MCP-1), macrophage inflammatory protein-1α (MIP-1α), epidermal growth factor (EGF), and vascular endothelial growth factor (VEGF) levels were measured using multiplex bead (Luminex) technology in 12 rosacea patients without ocular involvement (group 1), 20 rosacea patients with ocular involvement (group 2), and 22 healthy subjects (group 3). The correlation of the cytokines with tear function parameters was analyzed using Spearman correlation test., Results: Tear IL-10 and VEGF levels were significantly lower in group 1 (median: 35.78 pg/mL and 427.29, respectively) and group 2 (median: 26.25 pg/mL and 348.31, respectively) than in group 3 (median: 75.96 pg/mL and 480.12, respectively) (p < 0.05). Mean serum IL-8 level was significantly lower in group 2 (median = 0) compared to group 3 (median = 3.98) (p = 0.02). Tear breakup time was found to be positively correlated with IL-10 (r = 0.46, p = 0.013) and inversely correlated with MCP-1 (r = -0.52, p = 0.004)., Conclusions: Tear and serum levels of cytokines and growth factors measured with Luminex technology showed a large variation in rosacea and healthy subjects. Decreased levels of tear IL-10, an anti-inflammatory cytokine, may lead to an inflammatory ocular surface environment, exacerbate ocular surface inflammation, and deteriorate tear function tests. A bigger sample size, including rosacea patients with corneal involvement, is needed to confirm the role of cytokines in the pathogenesis of rosacea-associated ocular inflammation.

Background: Tumour necrosis factor-alpha (TNF-α) is an important proinflammatory cytokine driving axonal degeneration and retinal ganglion cell apoptosis in glaucoma. The aim of the study was to evaluate the association of TNF-α -308 G/A and -238 G/A polymorphisms with primary open-angle glaucoma (POAG)., Design: A prospective, case-control study, university hospital setting., Participants: Eighty-six POAG patients and 193 healthy unrelated controls., Methods: TNF-α polymorphisms were screened by using direct gene sequencing., Main Outcome Measures: Frequency of TNF-α -308 G/A and TNF-α -238 G/A promoter polymorphisms in glaucoma and healthy subjects., Results: The frequencies of TNF-α -308 GA genotype and 'A' allele were higher in patients with POAG (22.1% and 12.2%, respectively) in comparison with the control group (10.9% and 6%, respectively) (P = 0.046 and 0.02, respectively), with odds ratios of 2.45 (P = 0.01, 95% CI = 1.23-4.87) and 2.19 (P = 0.013, 95% CI = 1.18-4.08), respectively. Genotype distribution of the TNF-α -238 variants did not yield a statistically significant difference between the two groups (P = 0.87)., Conclusion: TNF-α -308 G/A polymorphism seems to be associated with POAG in Turkish population. However, population-based studies with large number of subjects and long-term follow-up are needed to verify the association of TNF-α -308 G/A polymorphism with glaucoma susceptibility., (© 2011 The Authors. Clinical and Experimental Ophthalmology © 2011 Royal Australian and New Zealand College of Ophthalmologists.)

Tumor necrosis factor alpha (TNF-alpha) is a principal cytokine that may induce weight loss. TNF-alpha -308 G to A polymorphism increases transcription of TNF-alpha in vitro. The aim of this study was to investigate whether TNF-alpha gene promoter polymorphism at position -308 (G to A substitution) is one of the factors playing a role in the development of anorexia nervosa (AN). Sixteen patients with AN, aged 11-20 years, were included in this study, and 5/16 (31%) patients had TNF-alpha -308 G/A genotype. In the control group, 12/174 (7%) had -308 G/A genotype. There was a significant statistical difference between the patient and control groups (p=0.007). The minimum body mass index (BMI) values ever recorded for each patient during the course of the disease were significantly higher in the five patients with TNF-alpha -308 G to A polymorphism (p= 0.003). TNF-alpha gene promoter polymorphism at position -308 might be associated with a predisposition to AN and initiate the disease. The protective mechanisms that affect clinical manifestation of the disease may be related with other anti-inflammatory cytokines or immunologic mechanisms.

X-linked agammaglobulinemia (XLA) is a primary B cell immunodeficiency disorder, caused by a defect in the Bruton tyrosine kinase (BTK) gene. Here, we describe a novel four base pair mutation (838delGAGT) in intron 9 of the BTK gene leading to the skipping of exon 9 in a 2.5-year-old boy with this disorder.

Interleukin-12 receptor beta1 IL12RB1 deficiency causes vulnerability to poorly virulent mycobacteria and nontyphoid Salmonella species. We describe a 2.5 year-old girl with IL12RB1 deficiency, caused by a homozygous mutation in this gene, who presented with recurrent bacteremia caused by Salmonella spp.

Objectives: Several studies have suggested that genetic susceptibility to rheumatic fever (RF) may be linked to HLA Class II alleles. The purpose of this study was to examine the association between HLA Class II genes and RF in Turkish children., Methods: DNA typing HLA Class II genes (DRB1, DQA1, DQB1) were performed in 55 children with RF and 50 healthy unrelated controls using sequence specific primers (SSP)., Results: The frequency of the HLA DQA1*03 (OR: 0.462, p < 0.05) allele was significantly decreased in the patient group. Also, the frequency of the combination of DRB1*04 and DQA1*03 allele (OR: 0.42, p < 0.01) was more significantly decreased in the patient group. Differences in frequencies of the DRB1 and DQB1 alleles between groups were not significant., Conclusions: Our data indicate that the HLA DQA1*03 allele may be a protecting factor in Turkish children with RF. Our results also suggest that the combination of the DRB1*04 and DQA1*03 alleles may be a stronger protective factor than the DQA1*03 allele alone.

Objective: To determine the relation between factor V Leiden and Behçet's disease (BD), which is described as chronic relapsing vasculitis with pathogenetic mechanisms that seem to be related to anticoagulant pathways., Methods: Using polymerase chain reaction, the factor V Leiden mutation was investigated in 44 patients with BD, of which 5 had thrombotic histories., Results: Ten patients were found to have the factor V Leiden mutation. This frequency (22.7%) was higher than that of our general population (7.1 %) (p < 0.05). Of the 5 patients with BD with thrombotic histories, 3 (60%) had factor V Leiden mutation (one homozygote, 2 heterozygote), while 7 of 39 (17.9%) patients with no thrombotic history had the factor V Leiden mutation (2 homozygotes, 5 heterozygotes). There is no statistical difference in the frequency of the factor V mutation between patients with BD with no thrombosis and the control group. The frequency of thrombosis in BD with and without factor V Leiden mutation was (3/10) 30% and (2/34) 5.9%, respectively., Conclusion: These findings suggest that homozygosity or heterozygosity for factor V Leiden is not always associated with occurrence of venous thrombosis in BD, but it may be a contributing risk factor for venous thromboembolic events in these patients.

Resistance to activated protein C (APC), which is caused by a single point mutation in the gene for factor V, is a common risk factor for thrombosis. In this study, we screened factor V (FV) Leiden mutation in 81 subjects. The mutation in the heterozygous form was found in 7.1 percent of our normal population. This high frequency suggests that screening for the FV mutation should be considered in patients with a family history of thrombosis.

The factor V Leiden mutation in 12-children with thrombosis and in 20 controls was investigated. Five heterozygous individuals and 1 homozygous individual among the cases with thrombosis and 1 heterozygous individual among controls were found. Central nervous system thromboses were increased in children with the factor V mutation, associated with protein S deficiency.

Prenatal diagnosis of sickle cell anemia was carried out in four fetuses using DNA technology. Fetal chorionic villus specimen were obtained at the 10th week of pregnancy from women at risk of giving birth to children with sickle cell anemia. Whole cellular DNA was obtained and the part of the DNA presumed to have a mutation increased after PCR was performed. After the application of Dde I restriction enzyme, mini gel electrophoresis was performed. The study of the electrophoretic patterns of the DNA indicated that one of the four fetuses was unaffected, one was a carrier and the remaining two were affected.