Avellino corneal dystrophy(ACD) is an autosomal dominant eye disorder caused by mutation of R124H in the transforming growth factor-beta induced gene (TGFBI) on chromosome 5,which was responsible for accumulating of abnormal TGFBI.Although the underlying mechanism by which mutations cause abnormal TGFBI deposition is not yet clear,but we have a better understanding of the etiology and possible pathogenesis of corneal dystrophy with the rapid development of human genetics and molecular biology,and summarizes the current achievement of this disease and understand the roles of TGFBI and its interaction with Periostin,which may contribute to further research in ACD.

Objective To explore the adverse reactions of contrast-enhanced ultrasound and treatments of the adverse reactions. Methods 6035 patients examined by contrast-enhanced ultrasound were closely observed in the process and 20 minutes after the examination. The occurrence and clinical manifestations of adverse reactions were recorded. The patients were gave symptomatic treatments. Results Two of 6035 patients experienced mild adverse reactions related with contrast-enhanced ultrasound. The incidence rate was 0. 031% (2/6035). No moderate or serious adverse reaction occurred. The two patients recovered well after symptomatic treatments. Conclusions The contrast-enhanced ultrasound has high safety and low incidence rate of adverse reaction. Patients should be under close observation in the process of contrast-enhanced ultrasound. The symptomatic treatments should be gave in time.

OBJECTIVETo compare the effects of different doses of microwave on the proliferative activity and cell cycle of cultured epithelial cells of rabbit lens, and to investigate the limit tolerant of microwave exposure.

METHODSCultured epithelial cells of rabbit lens were exposed to microwave radiation with frequency of 2,450 MHz and power density of 0.10, 0.25, 0.50, 1.00, 2.00 mW/cm(2) for 8 h in vitro. HE staining was used to observe the morphological changes of lens epithelial cells, the proliferative activity and cell cycle were measured by MTT assay and PI fluorescent staining.

RESULTS8 h after radiation, 0.50, 1.00 and 2.00 mW/cm(2) microwave could decrease the proliferation of lens epithelial cells, make the cells disordered arrangement, shrinkage, detachment, and inhibit the synthesis of cell DNA. The percentage of G(0)/G(1) phase cells were 71.95% +/- 2.12%, 75.68% +/- 3.35% and 82.40% +/- 8.68% respectively, which were higher than that in control group (61.68% +/- 5.76%, P < 0.05 or P < 0.01). The percentage of S phase cells were 19.32% +/- 3.07%, 16.08% +/- 4.91% and 12.98% +/- 8.08% respectively, which were lower than that in control group (28.05% +/- 5.12%, P < 0.05 or P < 0.01). No obvious changes could be detected in 0.10, 0.25 mW/cm(2) microwave groups (P > 0.05).

CONCLUSIONMicrowave exceeding 0.50 mW/cm(2) may make injury to lens epithelial cells after 8 hour radiation, which may be related to the effect of microwave radiation on cell cycle.

Animals ; Cell Cycle ; radiation effects ; Cells, Cultured ; DNA ; metabolism ; Epithelial Cells ; cytology ; metabolism ; radiation effects ; Lens, Crystalline ; cytology ; metabolism ; radiation effects ; Microwaves ; Rabbits

OBJECTIVETo observe the effects of low power microwave radiation on lens hydration and lens epithelial cells in vitro, and detect the expression of PKC-alpha, c-fos and c-jun in lens epithelial cells.

METHODSRabbit lens were exposed to microwave radiation with frequency of 2450 MHz and power density of 0.5, 2.0 and 5.0 mW/cm(2) in vitro. The hydration of lens was measured after 8 hours. Morphological changes of lens epithelial cells were observed using a phase-contrast microscope and Hoechst 33258 staining. Expression of PKC-alpha, c-fos and c-jun were analyzed using gel electrophoresis and western blot analysis.

RESULTSAfter 2.0 and 5.0 mW/cm(2) microwave radiation, the hydration of lens was increased compared to control groups (P<0.05), the shape of lens epithelial cells showed shrinking and disorder and cells nuclei appeared chromatin condensation. There was no change of lens and lens epithelial cells after 0.5 mW/cm(2) microwave radiation. The expression of PKC-alpha was significantly increased in cell membrane, however, decreased in cell cytoplasm after 2.0 mW/cm(2) microwave radiation for 2, 4, 6 and 8 hours. There was significantly increased expression of c-fos and c-jun protein compared with control groups (P<0.05, P<0.01).

CONCLUSIONLow power microwave radiation higher than 2.0 mW/cm(2) can activate PKC-alpha by increasing its expression in cell membrane, then induce high expression of c-fos and c-jun, which may relate to cellular signaling pathway of microwave radiation injury to lens and lens epithelial cells.

Animals ; Epithelial Cells ; metabolism ; pathology ; radiation effects ; In Vitro Techniques ; Lens, Crystalline ; metabolism ; pathology ; radiation effects ; Protein Kinase C-alpha ; metabolism ; Rabbits ; Transcription Factors ; metabolism

BACKGROUNDGammad-crystallin plays an important role in human cataract formation. Being highly stable, gammaD-crystallin proteins are composed of two domains. In this study we constructed and analyzed protein models of the mutant gammaD-crystallin gene, which caused a special fasciculiform congenital cataract affecting a large Chinese family.

METHODSgammaD-crystallin protein structure was predicted by Swiss-Model software using bovine gammaD-crystallin as a template and Prospect software using human betab2-crystallin as a template. The models were observed with a Swiss-Pdb viewer.

RESULTSThe mutant gammaD-crystallin structure predicted by the Swiss-Model software showed that proline23 was an exposed surface residue and P23T change made a decreased hydrogen bond distance between threonine23 and asparagine49. The mutant gammaD-crystallin structure predicted by the Prospect software showed that the P23T change exerted a significant effect on the protein's tertiary structure and yielded hydrogen bonds with aspartic acid21, asparagine24, asparagine49 and serine74.

CONCLUSIONThe mutant gammaD-crystallin gene has a significant effect on the protein's tertiary structure, supporting that alteration of gamma-crystallin plays an important role in human cataract formation.

Animals ; Cattle ; Computer Simulation ; Hydrogen Bonding ; Models, Molecular ; Mutation ; Protein Structure, Tertiary ; gamma-Crystallins ; chemistry ; genetics ; physiology

INTRODUCTIONWe aimed to report the outcomes of inguinal hernia repair performed at Tan Tock Seng Hospital and compare them with those performed at dedicated hernia centres.

METHODSWe retrospectively analysed the medical records and telephone interviews of 520 patients who underwent inguinal hernia repair in 2010.

RESULTSThe majority of the patients were male (498 [95.8%] men vs. 22 [4.2%] women). The mean age was 59.9 ± 15.7 years. Most patients (n = 445, 85.6%) had unilateral hernias (25.8% direct, 64.3% indirect, 9.9% pantaloon). The overall recurrence rate was 3.8%, with a mean time to recurrence of 12.0 ± 8.6 months. Risk factors for recurrence included contaminated wounds (odds ratio [OR] 50.325; p = 0.004), female gender (OR 8.757; p = 0.003) and pantaloon hernias (OR 5.059; p = 0.013). Complication rates were as follows: chronic pain syndrome (1.2%), hypoaesthesia (5.2%), wound dehiscence (0.4%), infection (0.6%), haematoma/seroma (4.8%), urinary retention (1.3%) and intraoperative visceral injury (0.6%). Most procedures were open repairs (67.7%), and laparoscopic repair constituted 32.3% of all the inguinal hernia repairs. Open repairs resulted in longer operating times than laparoscopic repairs (86.6 mins vs. 71.6 mins; p < 0.001), longer hospital stays (2.7 days vs. 0.7 days; p = 0.020) and a higher incidence of post-repair hypoaesthesia (6.8% vs. 1.8%; p = 0.018). However, there were no significant differences in recurrence or other complications between open and laparoscopic repair.

CONCLUSIONA general hospital with strict protocols and teaching methodologies can achieve inguinal hernia repair outcomes comparable to those of dedicated hernia centres.

Adult ; Aged ; Aged, 80 and over ; Female ; Hernia, Inguinal ; surgery ; Herniorrhaphy ; methods ; standards ; Hospitals, General ; organization & administration ; Hospitals, Special ; organization & administration ; Humans ; Male ; Medical Records ; Middle Aged ; Recurrence ; Retrospective Studies ; Singapore ; Treatment Outcome ; Young Adult

OBJECTIVETo test the hypothesis whether polymorphism in estrogen-metabolizing genes, COMT and CYP17, impacts on the risk of breast cancer among Chinese women.

METHODSCOMT (Val158Met) and CYP17 (T1931C) polymorphisms were detected by PCR-based restriction fragment length polymorphism analysis in 250 breast cancer patients and 250 frequency-matched normal controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated by unconditional logistic regression.

RESULTSCOMT Met/Met genotype was found in 10.4% of breast cancer patients, which was significantly higher (P = 0.03) than that in controls (5.2%). Women with Met/Met genotype showed 2-fold increased risk for breast cancer (adjusted OR 2.1, 95% CI 1.1 - 4.5) compared with those with Val/Val or Val/Met genotypes. Stratified analysis showed that the elevated risk of breast cancer, associating with the COMT Met/Met genotype, was evident only among premenopausal women (adjusted OR 4.1, 95% CI 1.2 - 17.3) but not among postmenopausal women (adjusted OR 1.3, 95% CI 0.5 - 3.5). There was no significant difference in the distribution of CYP17 genotypes between breast cancer patients and the control subjects (P = 0.83).

CONCLUSIONThe allele encoding for low activity COMT, but not CYP17, may be a genetic risk factor for breast cancer among Chinese women.

Adult ; Aged ; Breast Neoplasms ; etiology ; genetics ; Catechol O-Methyltransferase ; genetics ; Female ; Humans ; Menopause ; Middle Aged ; Polymorphism, Single Nucleotide ; Risk Factors

Decreased sperm count, low sperm motility and sperm malformation are important factors of male infertility, but their pathogenic mechanisms have not yet been elucidated. Autophagy is an evolutionarily highly conservative cellular process and plays an important role in spermatogenic cells in both normal physiological and adverse conditions. On the one hand, autophagy can degrade the majority of long-lived proteins and organelles to maintain the intracellular homeostasis of spermatogenic cells, the meiosis of spermatocytes and spermiogenesis, and improve sperm motility. On the other hand, excessive autophagy can lead to excessive consumption of proteins and damage to organelles, induce cellular dysfunction, and result in sperm count reduction, spermatogenic defects, and low sperm motility. This review presents an overview of the recent studies on the influences of autophagy on spermatogenesis and sperm motility, aiming for some new therapeutic targets for male infertility.

Constitutive activation of nuclear transcription factor-κB (NF-κB) exists in a variety of leukemia, and induction of apoptosis through blocking NF-κB activation may be an alternative strategy for leukemia treatment. The aim of this study was to investigate the inducing effect of modified adenovirus 5-based adenovirus vector (i.e. chimeric Ad5F35 Vec)-mediated expression of mutant IκBα (IκBαDN) on apoptosis of HL-60 cells. The recombinant Ad5F35-IκBαDN Vec carrying IκBαDN cDNA which deleted the first 1-70 amino acids coding sequences at 5' terminal of human IκBα was transfected into HL-60 cells. The apoptosis, NF-κB DNA binding activity, the expressions of IκBα, cIAP-2 and xIAP in HL-60 cells were detected by DNA binding assay, flow cytometry, real-time quantitative polymerase chain reaction and Western blot respectively. The results showed that apoptosis rates were 22.53 ± 2.999%, 6.08 ± 2.464% and 4.86 ± 1.366% for Ad5F35-IκBαDN Vec-infected or blank vector of Ad5F35-EGFP Vec-transfected and untransfected HL-60 cells respectively, which showed a significant difference between Ad5F35-IκBαDN Vec-transfected and untransfected cells (p < 0.001) and between Ad5F35-IκBαDN Vec-transfected and Ad5F35-EGFP Vec-transfected cells (p < 0.001, p < 0.002), while NF-κB DNA binding activity was decreased, the truncated IκBα was expressed, and IκBα mRNA expression was up-regulated, but the expression of cIAP-2 and xIAP mRNA was down-regulated after transduction for 48 hours. It is concluded that the chimeric Ad5F35 Vec can effectively mediate the expression of IκBαDN cDNA in HL-60 cells, leading to the inhibition of NF-κB DNA binding activity and inducing apoptosis of HL-60 cells.
Adenoviridae ; genetics ; Apoptosis ; Genetic Vectors ; HL-60 Cells ; Humans ; I-kappa B Proteins ; genetics ; NF-KappaB Inhibitor alpha ; NF-kappa B ; genetics ; Transfection

OBJECTIVETo improve the chemically-activated luciferase expression (CALUX) bioassay for detection of dioxin-like chemicals (DLCs) based on the toxicity mechanisms of DLCs.

METHODSA recombinant vector was constructed and used to transfect human hepatoma (HepG2). The expression of this vector was 10-100 folds higher than that of pGL2 used in previous experiments. The transfected cells showed aromatic hydrocarbon receptor (AhR)-meditated luciferase gene expression. The reliability of luciferase induction in this cell line as a reporter of AhR-mediated toxicity was evaluated, the optimal detection time was examined and a comparison was made by using the commonly used ethoxyresoufin-O-deethylase (EROD) activity induction assay.

RESULTSThe results suggested that the luciferase activity in recombinant cells was peaked at about 4 h and then decreased to a stable activity by 14 h after TCDD treatment. The detection limit of this cell line was 0.11 pmol/L, or 10-fold lower than in previous studies, with a linear range from 1 to 100 pmol/L, related coefficient of 0.997, and the coefficient of variability (CV) of 15-30%.

CONCLUSIONThe luciferase induction is 30-fold more sensitive than EROD induction, the detection time is 68 h shorter and the detection procedure is also simpler.

Biological Assay ; methods ; Carcinoma, Hepatocellular ; pathology ; Cytochrome P-450 CYP1A1 ; biosynthesis ; Environmental Pollutants ; adverse effects ; pharmacology ; Enzyme Induction ; Gene Expression Regulation ; Humans ; Luciferases ; biosynthesis ; Polychlorinated Dibenzodioxins ; adverse effects ; pharmacology ; Sensitivity and Specificity ; Transfection ; Tumor Cells, Cultured