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Purpose: The purpose of this study was to evaluate the association between the intronic expansion of a trinucleotide repeat (TNR) in the TCF4 gene and Fuchs' endothelial corneal dystrophy (FECD) in a Japanese population., Methods: Forty-seven Japanese FECD patients and 96 age-matched controls were recruited. FECD patients and controls were examined by slit-lamp and noncontact specular microscopy. The repeat length was determined by direct sequencing and short tandem repeat assay of PCR-amplified DNA and Southern blotting of unamplified DNA., Results: A TNR expansion, defined as >50 CTG repeats in the TCF4 gene was identified in 12 of 47 FECD cases (26%) and 0 of 96 controls (0%; P < 0.001). Sensitivity and specificity in this study were 26% and 100%, respectively. The clinical characteristics of FECD patients with TNR expansion were not distinct from those without TNR expansion., Conclusions: These findings show for the first time in a Japanese population the association of the TNR expansion in TCF4 with FECD. In contrast to Caucasian cohorts in whom the TNR expansion is present in most patients with FECD, a CTG expansion is present in a minority of Japanese subjects, indicating other genetic variants as common causes of phenotypically identical disease in this population.

Background: Helicobacter pylori infection is a major risk factor for chronic gastritis, digestive ulcers, and gastric cancer. Previous studies have shown associations between H. pylori infection and decreased iron storage. Therefore, this study aimed to examine the associations between H. pylori infection and serum iron and ferritin levels in Japan., Materials and Methods: Overall, 268 Japanese individuals who visited a clinic located in an urban area for H. pylori infection tests and subsequent eradication were enrolled. H. pylori infection was diagnosed by a (13) C-urea breath test, with positive results defined as values ≥2.5‰., Results: The overall infection rate was 65.3% (175/268). The geometric mean serum iron levels in uninfected and infected subjects were 115.7 μg/dL and 108.9 μg/dL, respectively, in men, and 83.9 and 91.8 μg/dL, respectively, in women. The geometric mean serum ferritin levels were 128.9 and 81.0 ng/mL, respectively, in men, and 25.5 and 27.0 ng/mL, respectively, in women. Regression analysis adjusted for age showed that lower geometric mean serum ferritin levels were significantly associated with H. pylori infection in men (131.8 vs 79.4 ng/mL p = .009) and in women (33.9 vs 23.4 ng/mL p = .041). The difference was greater in subjects ≥50 years old, although the interaction was not statistically significant. Helicobacter pylori infection was not significantly associated with serum iron levels., Conclusion: This study showed that H. pylori infection was significantly associated with altered serum ferritin levels in Japanese individuals, particularly in those aged ≥50 years., (© 2013 John Wiley & Sons Ltd.)

Background: Interleukin-6 (IL-6) is a multifunctional cytokine produced by many types of cells. Inflammation plays a key role in the pathogenesis of atherosclerosis that is an underlying cause of coronary heart disease (CHD). Since the 1990s, some studies have shown an association between H. pylori infection and CHD, which may be mediated by inflammation. Therefore, this study aimed to evaluate the association between serum anti-H. pylori IgG levels and serum IL-6 levels in H. pylori-infected adults., Methods: We enrolled 158 subjects who visited a clinic located in an urban area to be tested for H. pylori infection, using the (13)C-urea breath test, and who were found to be infected and subsequently received eradication., Results: The geometric mean serum IL-6 level was 1.78 pg/mL for men, 1.57 pg/mL for women, and 1.64 pg/mL overall. Logarithms of serum IL-6 levels were positively correlated with logarithms of serum H. pylori IgG levels (r = 0.24, P = 0.002). In multiple linear regression analysis adjusting for sex and age, the serum IL-6 level was still significantly associated with the IgG level in all subjects (β = 0.18, P = 0.012)., Conclusion: Higher H. pylori IgG levels were significantly associated with higher serum IL-6 levels among H. pylori-infected individuals.

Purpose: The phosphoinositide kinase, FYVE finger containing (PIKFYVE) gene has been identified as a gene responsible for fleck corneal dystrophy (FCD). The purpose of this study is to report a novel mutation of the PIKFYVE gene in a Japanese patient with fleck corneal dystrophy., Methods: Slit-lamp microscopy, corneal topography, and optical coherence tomography were performed for the clinical examination of the patient's eye. For genetic analysis, peripheral blood was obtained from the patient and her sister. DNA was extracted from the blood and subjected to mutation analysis by sequencing of the PIKFYVE gene. The sequencing results were validated with a PCR-fragment length polymorphism analysis., Results: A 63-year-old woman presented at our clinic with complaints of decreased vision and metamorphopsia in her right eye occurring 1 month before presentation. Both eyes exhibited small, dot-like, white flecks scattered throughout all layers of the corneal stroma, which corresponds to the typical FCD phenotype. The opacities were relatively dominant at the peripheral region of the cornea, yet were found throughout the entire cornea. Sequence analysis revealed that the patient has a heterozygous c.4166&#95;4169delAAGT mutation located at exon 24 of the PIKFYVE gene that may cause p.Glu1389AspfsX16 flame-shift mutation, which has never before been reported for FCD., Conclusions: To the best of our knowledge, this is the first study to show that a novel mutation (p.Glu1389AspfsX16) causing the truncation of the PIKFYVE protein causes fleck corneal dystrophy in the Japanese population.

Recently, specific detection method for Bacteria, by flow cytometry method using nucleic acid staining, was developed as a function of automated urine formed elements analyzer for routine urine testing. Here, we performed a basic study on this bacteria analysis method. In addition, we also have a comparison among urine sediment analysis, urine Gram staining and urine quantitative cultivation, the conventional methods performed up to now. As a result, the bacteria analysis with flow cytometry method that uses nucleic acid staining was excellent in reproducibility, and higher sensitivity compared with microscopic urinary sediment analysis. Based on the ROC curve analysis, which settled urine culture method as standard, cut-off level of 120/microL was defined and its sensitivity = 85.7%, specificity = 88.2%. In the analysis of scattergram, accompanied with urine culture method, among 90% of rod positive samples, 80% of dots were appeared in the area of 30 degrees from axis X. In addition, one case even indicated that analysis of bacteria by flow cytometry and scattergram of time series analysis might be helpful to trace the progress of causative bacteria therefore the information supposed to be clinically significant. Reporting bacteria information with nucleic acid staining flow cytometry method is expected to contribute to a rapid diagnostics and treatment of urinary tract infections. Besides, the contribution to screening examination of microbiology and clinical chemistry, will deliver a more efficient solution to urine analysis.