DNA repair gene XPD Asp312Asn and XRCC4 G-1394T polymorphisms and the risk of autism spectrum disorder.

Autism spectrum disorder (ASD) is a complex disorder, and its extreme heterogeneity further complicates our understanding of its biology. Epidemiological evidence from family and twin studies supports a strong genetic component in ASD etiology. Oxidative stress and abnormal DNA methylation have been implicated in the pathophysiology of ASD. Brain tissues from ASD cases showed higher levels of oxidative stress biomarkers than healthy controls in postmortem analysis. Association between oxidative stress and DNA damage has been well-known. Thus, we sought to investigate a potential link between DNA repair genes and ASD and analyze the role of XPD Asp312Asn and XRCC4 G-1394T gene polymorphisms for ASD in the Turkish population. Genotyping was conducted by PCR-RFLP based on 100 patients and 96 unrelated healthy controls. We, for the first time, demonstrated a positive association between XRCC4 gene variants and ASD risk. Frequencies of XRCC4-1394 T/G+G/G genotypes were higher in patients (%34) than the controls (%18.7). The statistical analysis revealed that the individuals who had XRCC4-1394 T/G+G/G genotype had an increased risk for ASD (OR = 2.23, 95% CI = 1.10-4.55). However, no significant association was found for XPD Asp312Asn polymorphism with the risk of ASD. Our findings suggest that XRCC4 G-1394T polymorphism might be associated with ASD pathogenesis.

Asymmetric dimethylarginine (ADMA) levels are increased in patients with fibromyalgia: correlation with tumor necrosis factor-α (TNF-α) and 8-iso-prostaglandin F(2α) (8-iso-PGF(2α)).

OBJECTIVE: The aim of the study was to investigate serum levels of asymmetric dimethylarginine (ADMA), tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6) and plasma levels of 8-iso-prostaglandin F(2α) (8-iso-PGF(2α)) in patients with fibromyalgia. DESIGN AND METHOD: Twenty-seven patients with fibromyalgia and twenty healthy controls were enrolled in this study. ADMA, TNF-α, IL-6 and 8-iso-PGF(2α) levels were measured by enzyme-linked immunosorbent assay (ELISA). RESULTS: Serum levels of ADMA and TNF-α and plasma levels 8-iso-PGF(2α) were significantly increased in patients with fibromyalgia compared to controls. However, no significant difference was observed in IL-6 levels between the two groups. ADMA concentrations were positively correlated with TNF-α and 8-iso-PGF(2α) levels in patients with fibromyalgia. CONCLUSION: This is the first study reporting that ADMA levels are significantly elevated in patients with fibromyalgia in association with increased 8-iso-PGF(2α) and TNF-α concentrations. Thereby, ADMA could be suggested as a reliable marker of endothelial dysfunction in patients with fibromyalgia.

Serum YKL-40 levels in acute appendicitis.

INTRODUCTION: Acute appendicitis is one of the most common abdominal emergencies. The clinical diagnosis is often difficult even for experienced surgeons, however, as evidenced by the high rate of negative explorations. A delay in diagnosis of acute appendicitis is associated with increased risk of perforation and further complications. The aim of the present study was to assess the preoperative YKL-40 levels on for a clinical suspicion of acute appendicitis. METHODS: Between August 2008 and December 2008, a total of 34 patients who underwent appendectomy with a clinical diagnosis of acute appendicitis were studied. Patients underwent appendectomy with the preoperative diagnosis of acute appendicitis. The appendix specimens were classified as normal appendix (group 1; 10 patients), acute appendicitis (group 2; 24 patients). Serum YKL-40 levels were determined by a commercial ELISA. RESULTS: The levels of serum YKL-40 were significantly higher in the group 2 compared with the group 1 (66.4 +/- 13.2 vs 41.6 +/- 11.6 ng/mL, p < 0.001). Receiver operating characteristic curves of YKL-40 levels counts was on a statistically significant level (area under the curve [AUC] = 0.926, p < 0.001). CONCLUSION: YKL-40 may be a useful marker for diagnosis of acute appendicitis but the number of subjects was limited in this study, future studies are required to confirm the results presented here (Fig. 1, Ref. 13).

Serum hyaluronidase levels in patients with aneurysmal subarachnoid haemorrhage.

INTRODUCTION: The purpose of this study was to investigate the time course(s) of the serum hyaluronidase levels in patients with aneurysmal subarachnoid haemorrhage and to show whether there is a correlation between symptomatic vasospasm and serum levels of hyaluronidase. METHODS: This prospective, open, non-randomised clinical study consisted of 20 patients with aneurysmal subarachnoid haemorrhage, and eight patients with normotensive hydrocephalus who served as the control group. Serum hyaluronidase levels were detected within the first three days, days five and seven after aneurysmal subarachnoid haemorrhage, and the results were compared with those from the control group. The results were also compared with those of the clinical parameters, including the patient's outcome at six months and symptomatic vasospasm. RESULTS: Mean serum hyaluronidase levels were higher on days five and seven, and comparisons with either day five (p-value is 0.001) and/or day seven (p-value is 0.00001) showed a statistical difference between subarachnoid haemorrhage and controls. However, no relationship was found between elevated serum hyaluronidase levels and the clinical parameters including symptomatic vasospasm (p-value is greater than 0.05) and outcome at sixth months (p-value is greater than 0.05). CONCLUSION: Our results indicate that serum hyaluronidase is elevated in the acute stage(s) of subarachnoid haemorrhage; however, no difference was found between serum hyaluronidase levels and subarachnoid haemorrhage severity. Clinical studies with larger population of patients with aneurysmal subarachnoid haemorrhage are required.

Evaluation of serum hyaluronic acid level and hyaluronidase activity in acute and chronic hepatitis C.

Following major tissue injury, hyaluronic acid production increases as a rapid response survival mechanism. Increased hyaluronic acid production and turnover are often associated with increased hyaluronidase activity, the enzyme that degrades hyaluronic acid. We investigated whether hyaluronic acid and hyaluronidase can be used as non-invasive markers of acute disease activity in hepatitis C by studying 26 patients with acute hepatitis C, 89 with chronic hepatitis C and 32 healthy controls. Chronic hepatitis C subjects were classified into five subgroups according to the stage of liver fibrosis. Serum aspartate aminotransferase and alanine aminotransferase activities and hyaluronic acid levels were increased in hepatitis C patients compared with the controls. Serum hyaluronic acid elevation correlated with disease progression. Serum hyaluronidase activities were also increased in patients compared with the controls, but decreased with disease progression. We conclude that both hyaluronidase and hyaluronic acid may be useful as early non-invasive serum indicators of disease activity in acute hepatitis C.

Evaluation of salivary sialic acid level and Cu-Zn superoxide dismutase activity in type 1 diabetes mellitus.

In this study, our aim was to determine whether or not type 1 diabetes mellitus affects salivary sialic acid level and SOD activity. For this purpose, unstimulated saliva specimen was collected. Saliva sialic acid level and SOD activity were measured by the methods of Warren and Sun, respectively. We found significantly decline in salivary sialic acid level and SOD activity. The decrease of salivary sialic acid level in type 1 diabetes may be due to changes in the activities of the enzymes taking part of in the synthesis and catabolism of sialic acid. The main reason for the decrease of salivary SOD activity may be increased glycation of the enzyme and/or deleterious effect of increased free oxygen radicals by glycated proteins on SOD activity in diabetes. We conclude the decline both in sialic acid and SOD in saliva may be a possible factor leading to oral complications of diabetes mellitus.