Fractalkine receptor polymorphism may not be associated with the development and clinical course of ulcerative colitis.

Fractalkine (CX3C), a chemokine expressed by epithelial cells within normal and inflamed colorectal mucosa, induces leukocyte adhesion and migration via fractalkine receptor. The aim of this study was to investigate two single nucleotide polymorphisms of the fractalkine receptor gene as a risk factor both for the development and clinical findings of ulcerative colitis. In this study, 51 patients with ulcerative colitis (UC) and 80 controls were recruited. Genotypes of fractalkine receptorc.745G>A (V249I) and c.839C>T (T280M) polymorphisms were identified by restriction fragment length polymorphism analyses after polymerase chain reaction.Genotype distribution and allele frequencies of V249I and T280M were not statistically significantly different between UC and control groups (p>0.05). No statistically significant relationship was found between fractalkine receptor polymorphisms and clinical findings of UC. We observed no significant difference in fractalkine receptor polymorphism between patients and control group and no genotype-phenotype relation. Therefore, we concluded that fractalkine receptor polymorphisms may not contribute to the molecular pathogenesis of UC.

Chronic tonsillitis is not associated with beta defensin 1 gene polymorphisms in Turkish population.

BACKGROUND: Defensins are antimicrobial peptides expressed on mucosal surfaces. They function as part of the innate immune system. Palatine tonsils play important roles in innate immune system. However, our knowledge on the pathophysiology of chronic tonsils is limited. OBJECTIVE: The aim of this study was to investigate the association between beta defensin 1 gene single nucleotide polymorphisms and chronic tonsillitis. STUDY DESIGN: Prospective, non-randomized, controlled clinical study. SETTING: Tertiary referral center. SUBJECTS AND METHODS: Eighty six patients with chronic tonsillitis and eighty controls without history of chronic tonsillitis were enrolled in this study. Genotypes were determined by restriction fragment length polymorphism analyses after polymerase chain reaction. RESULTS: Genotype and allele frequencies of the -20G/A (rs11362), -44C/G (rs1800972) and -52G/A (rs1799946) single nucleotide polymorphisms were not statistically different between patients and control groups (p>0.05). CONCLUSION: In this study, we found that DEFB1 gene -20G/A, -44C/G and -52G/A single nucleotide polymorphisms were not associated with chronic tonsillitis. Studies, which analyse other polymorphism of the beta defensin 1 gene in large case series, should be conducted to understand the role of DEFB1 gene on chronic tonsillitis.

Fractalkine receptor polymorphism and chronic tonsillitis.

The objective of this study is to examine whether there is an association of fractalkine gene receptor polymorphisms with chronic tonsillitis. This is a cross-sectional study in the setting of a tertiary referral center. The study group included 79 patients with chronic tonsillitis and 76 controls without history of chronic tonsillitis. Genotypes were identified by restriction fragment length polymorphism analyses after polymerase chain reaction. c.745G>A (V249I) single nucleotide polymorphism and the frequencies of the G and A alleles did not differ in the patient and control groups (p = 0.363; p = 0.743, respectively). c.839C>T (T280M) single nucleotide polymorphism was found to be higher in controls than in the patients with chronic tonsillitis (p < 0.001). Consistent with this result, T allele frequency was higher in controls than in the patients with chronic tonsillitis (p < 0.001). In this study, we suggested that fractalkine gene receptor c.839C>T (T280M) single nucleotide polymorphism could be associated with a reduced risk of chronic tonsillitis.

Methylation profile analysis of DNA repair genes in hepatocellular carcinoma with MS-MLPA.

Hepatocellular carcinoma (HCC) is one of the rare tumors with well-defined risk factors. The multifactorial etiology of HCC can be explained by its complex molecular pathogenesis. In the current study, the methylation status of 7 genes involved in DNA repair mechanisms, namely MLH1, PMS2, MSH6, MSH2, MGMT, MSH3, and MLH3, was investigated in tumor samples from HCC patients, using the methylation-specific-multiplex ligated probe amplification method and the results were correlated with available clinical findings. The most common etiological factor in these cases was the presence of hepatitis B alone (47.2%). Among the 56 cases that were studied, promoter methylation was detected in at least one of the genes in 27 (48.2%) cases, only in 1 gene in 13 (23.2%) cases, and in >1 gene in 14 (25%) cases. Of the 7 genes investigated, methylation was most frequently observed in MSH3, in 14 (25%) cases. Methylation of at least 1 gene was significantly more frequent in patients with single tumors than multifocal tumors. There were significant differences regarding hepatitis B status, Child Class, tumor number, grade, and TNM stage in cases where PMS2 methylation was detected. Our results suggest that methylation of genes involved in mismatch repair may be responsible in the pathogenesis of HCC, and evaluating changes in multiple genes in these pathways simultaneously would be more informative. Despite being a robust and relatively inexpensive method, the methylation-specific-multiplex ligated probe amplification assay could be more extensively applied with improvements in the currently intricate data analysis component.

Injectable tissue-engineered cartilage using commercially available fibrin glue.

OBJECTIVES/HYPOTHESIS: To achieve injectable tissue-engineered cartilage using a commercially available fibrin sealant, and to determine the most suitable fibrin glue concentration, cartilage source, and cultured chondrocyte concentration. STUDY DESIGN: Animal research. METHODS: A total of 28 immunocompetent New Zealand white rabbits were divided into four groups. The cultured chondrocytes from different anatomical sources carried in fibrin glue with and without aprotinin in different concentrations of fibrinogen and thrombin (Tisseell), were injected into forehead and interocular regions of the rabbits. The new tissue formation was harvested at 8 weeks and analyzed through gross and histological analysis. RESULTS: The new tissue formations were found in round, elliptical, and flat forms. The mean value of Tisseell and cell suspension was 0.8 cc in all of the rabbits' injection regions, but the mean volume of the samples in which immature cartilage matrix and mature cartilage was 0.1 cc. In the 20 of the 55 injection regions of rabbits (36, 36%), mature and/or immature cartilage formation were observed. We observed inflammatory reactions, abscess formation, and foreign body reactions around the new cartilage tissue of tissue-engineered cartilage. The comparison of results using different cartilage sources, chondrocyte concentrations, or different fibrin glue concentrations did not show any significant difference. CONCLUSIONS: We observed that changing the concentrations of ingredients of commercially available fibrin glue, the source of the cartilage, or the cultured chondrocyte concentration did not have significant effect on neocartilage formation.

Transient hydrops fetalis in a prenatally diagnosed pentasomy X?

Numerical abnormalities of sex chromosomes are seen approximately 1 in 400 live births. Pentasomy X is a very rare chromosomal abnormality and it is defined as presence of five X chromosomes instead of two. Prenatal sonographic features have rarely been described in the literature before. Here we present a non-immune fetal hydrops diagnosed during the 17th week of gestation. Ultrasonographic examination revealed subcutaneous edema, pleural effusion and ascites, and also clinodactyly of the fifth fingers of both hands. The fetal karyotype was assessed as 49,XXXXX (pentasomy X) in two different culture flasks. Hydropic signs regressed at 21 weeks' gestation. Prenatal diagnosis may not be possible usually for this rare chromosomal abnormality. Every anomaly detected prenatally, such as transient hydrops, may help us to diagnose pentasomy X.

Lack of association between eotaxin-1 gene polymorphisms and nasal polyposis.

OBJECTIVE: To examine whether there is an association of eotaxin-1 gene polymorphisms with nasal polyposis (NP). STUDY DESIGN: Cross-sectional study. SETTING: Tertiary referral center. SUBJECTS AND METHODS: The study group included 85 patients with NP and 93 controls without sinonasal disease. Genotypes of eotaxin-1 (-384 A>G and +67 G>A) were identified by restriction fragment length polymorphism analyses after polymerase chain reaction. RESULTS: The -384 A>G and +67 G>A single nucleotide polymorphisms were higher in patients with NP than in controls (P = .044 and P = .019, respectively). However, their relation was statistically poor (association coefficient = 0.18). Consistent with this result, comparisons of allele frequencies for both single nucleotide polymorphisms were not significantly different (-384 A>G, P = .164; +67 G>A, P = .144). CONCLUSION: In this study, eotaxin-1 -384 A>G or 67 G>A genotypes were not associated with susceptibility to NP.

Effects of ascorbic acid and ß-carotene on HepG2 human hepatocellular carcinoma cell line.

Recent studies have demonstrated that vegetable rich diets have protective effects on the occurrence and prognosis of various cancers. In addition to dietary intakes, ascorbic acid and ß-carotene are also taken as supplements. The aim of this study was to assess effects of ascorbic acid, ß-carotene and their combinations on human hepatocellular carcinoma cell line HepG2. Ascorbic acid and ß-carotene were applied to cells as plasma peak concentrations (70 and 8 µM, respectively) and their half concentrations (35 and 4 µM, respectively) for 24 and 48 h. Genotoxic and cytotoxic effects of ascorbic acid and ß-carotene were evaluated by alkali single cell gel electrophoresis (SCGE), acridine orange/ethidium bromide staining patterns of cells (apoptosis and necrosis) and lipid peroxidation (thiobarbituric acid reactive substances, TBARS). Results of the SCGE demonstrated that both ascorbic acid and ß-carotene caused DNA damage on HepG2 which were also concordant to increased apoptosis and necrosis of cells. Increased TBARS values also demonstrated increased lipid peroxidation in these cells. Results of the present study demonstrates that when dietary intakes of ascorbic acid and ß-carotene and their relevant achievable plasma level concentrations were considered, both ascorbic acid and ß-carotene induce genotoxic and cytotoxic damage on HepG2 together with increased oxidative damage in contrast to their protective effect on healthy cells. This may be correlated to oxidative status and balance of ROS in hepatocellular carcinoma cells.

Matrix metalloproteinase-9 promoter gene polymorphism (-1562C>T) in nasal polyposis.

BACKGROUND: Expression of matrix metalloproteinase (MMP)-9 increases in nasal polyp tissues. However, the impact of MMP-9 genotypes on the development of nasal polyposis (NP) is unknown. The aim of this study was to examine a potential association of MMP-9 promoter gene polymorphism with the development of NP. METHODS: A prospective and case-control study was performed on 93 patients with NP and 115 controls without sinonasal disease. Genotypes of MMP-9 (-1562C>T) were identified by restriction fragment length polymorphism analyses after polymerase chain reaction. RESULTS: The frequency of -1562CT genotype of MMP-9 was significantly high in NP patients with aspirin-induced asthma (p = 0.014). Distribution of T allele was significantly high in NP patients with aspirin-induced asthma (p = 0.013). MMP-9 genotypes were not associated with gender or the presence of atopy. CONCLUSION: In this study, MMP-9 -1562CT genotype was associated with susceptibility to NP in aspirin-induced asthmatic patients. Because this report is a population-based study, further research should be performed on larger study subjects to reveal the precise role of MMP-9 promoter gene polymorphism in the development of NP.

Her-2/neu gene amplification in paraffin-embedded tissue sections of meningioma patients.

AIM: Meningiomas arise from the meningoendothelial cells and are one of the most common tumors of the central nervous system. The HER-2/neu gene is located on the 17q11.2-q12 chromosome region and encodes an epidermal growth factor receptor. HER- 2/neu gene amplification and/or over expression have been studied most widely in breast carcinomas. Previous studies have shown the importance of HER-2/neu gene amplification on the prognosis of meningioma cases. In this study, we aimed to detect HER-2/neu gene copy number in archive materials of 55 meningioma patients by fluorescent in situ hybridization (FISH). MATERIAL AND METHODS: The patients included in the study had undergone surgery in the neurosurgery department of our hospital between 1999 and 2002. Tissue samples were classified histologically according to WHO 2007 guidelines. Interphase FISH was performed on 3 to 4microm thick paraffin embedded tissue sections for the detection of HER- 2/neu gene amplification status. RESULTS: We found HER-2/neu gene amplification in 7 (12.73%) patients. Another 2 patients had only one signal for the HER-2/neu region. We confirmed this finding by a second hybridization with the chromosome 17p13.1 (p53) probe. CONCLUSION: According to our results, HER-2/neu amplification could be regarded as an additional genetic factor playing role in meningioma pathogenesis together with known chromosomal abnormalities.

Proinflammatory cytokine single nucleotide polymorphisms in nasal polyposis.

OBJECTIVE: To investigate the association between nasal polyposis (NP) and single nucleotide polymorphisms of the proinflammatory cytokines IL (interleukin) 1alpha (the IL1A gene), IL-1beta (the IL1B gene), and tumor necrosis factor alpha (the TNFA gene). DESIGN: Prospective case-control trial. SETTING: Tertiary referral center. PATIENTS: Eighty-two patients with NP and 106 healthy volunteers without sinonasal disease. MAIN OUTCOME MEASURES: Genotypes of IL1A (4845G, 4845T), IL1B (-511C, -511T) and TNFA (-238G, -238A and -308G, -308A) were identified by restriction fragment length polymorphism analyses after polymerase chain reaction. RESULTS: The 4845 GT and 4845 TT genotypes of the IL1A gene were associated with NP (P<.05). The frequency of the -511 CC genotype of the IL1B gene was significantly higher in patients with NP than in controls (P=.01). The frequency of the -511 CT genotype of IL1B was significantly higher (P=.01) in the controls than in the patients with NP. The -238 AA genotype of the TNFA gene was higher in the patients with NP than in the controls (P=.05). There was a significantly high risk of susceptibility to NP in patients with the -308 GA genotype of TNFA (P=.001). None of the genotypes of the proinflammatory cytokines were related to sex, the presence of atopy, asthma, or aspirin intolerance (P>.05). CONCLUSION: The IL1A (4845 GT and 4845 TT), IL1B (-511 CC), and TNFA (-238 AA and -308 GA) genotypes were associated with susceptibility to NP in our study population.

Effects of different preservation solutions on skin graft epidermal cell viability and graft performance in a rat model.

This study sought to evaluate the viable epidermal cell count of skin stored at 4 degrees C in different media, and to determine the longest time that grafts could be stored and still be used for clinical application of skin grafts. Harvested rat skin grafts were divided into four groups: saline (group 1), Roswell Park Memorial Institute-1,640 solution (RPMI) (group 2), University of Wisconsin solution (UW) (group 3), and Histidine-tryptophan-ketoglutarate solution (HTK) (group 4). After the designated storage time (7, 14, 21, 28, or 35 days), grafts were divided into two parts. Skin grafts (3 cm x 3 cm) were then autotransplanted onto full-thickness circular wound beds. Percentages of viable keratinocytes (PVK) declined significantly for skin grafts stored in UW, HTK, and saline solutions (Kruskal-Wallis, P<0.05), while there was an insignificant decline in the PVK of skin grafts stored in RPMI until the 28th day of storage (Kruskal-Wallis, P>0.05). Compared with UW, HTK, and saline, grafts stored in RPMI had significantly higher percentages of PCNA at the 14th and 21st days of storage (Mann-Whitney U-test, P<0.05). Grafts stored in RPMI had significantly lower apoptosis rates than did grafts stored in UW or HTK (P<0.05). Based on these results, we conclude that RPMI-1640 provides a better environment for skin grafts by increased quality and survival time of skin grafts, as assessed by both microscopic and macroscopic investigations.

The effect of plasminogen activator inhibitor-1 gene 4G/5G polymorphism on glucose and lipid metabolisms in Turkish obese children.

OBJECTIVE: Obesity is a metabolic disorder that is associated with increased plasminogen activator inhibitor-1 (PAI-1) concentration in the circulation. This increase is related to insulin resistance, dyslipidaemia and cardiovascular disease. Some studies have demonstrated a relationship between plasma PAI-1 concentrations and the 4G/5G gene polymorphism in the PAI-1 gene, while other studies have not. It is well known that plasma PAI-1 levels are increased in obesity; however, the relationship between the polymorphism and obesity remains unclear. In this study, we aimed to elucidate the effect of the PAI-1 4G/5G polymorphism on glucose and lipid metabolism parameters in Turkish obese children. DESIGN AND PATIENTS: Ninety children with obesity (37 male, 53 female; mean age 11.1 +/- 3.4 years; range 5.8-17.6 years) were included in the study. The children were divided into three groups according to the PAI-1 promoter 4G/5G polymorphism (4G/4G, 4G/5G and 5G/5G). These groups were compared for age, body mass index (BMI), serum glucose, lipid and insulin levels, and homeostasis model assessment of insulin resistance (HOMA-IR) score. RESULTS: The genotype distribution was 52% (47/90) 4G/4G, 25% (22/90) 4G/5G and 23% (21/90) 5G/5G. No statistically significant differences among genotype groups were found with respect to age, BMI, serum levels of glucose, lipid and insulin, and HOMA-IR score. CONCLUSION: Although the frequency of the 4G/4G genotype was higher in subjects in the current study than in subjects reported in the literature, in our study group we observed no influence of the PAI-1 4G/4G polymorphism on lipid and glucose metabolism.

Prenatal diagnosis of a partial monosomy 7q11-->q31 in a fetus with split foot.

OBJECTIVE: A 27-year-old woman was referred to our laboratory for genetic counseling at 26 weeks of gestation due to abnormal ultrasound findings including intrauterine growth retardation, Dandy-Walker malformation and lower extremity anomalies. METHODS: Chromosome analysis was performed on fetal blood sample obtained by cardiocentesis. RESULT: We observed an abnormal karyotype with a structural abnormality of the long arm of chromosome 7. Both parents' chromosomes were normal; thus, the fetal karyotype designation was 46,XX, del(7)(pter-->q11::q31-->qter) de novo. Skin biopsy sample was taken to confirm the karyotype after therapeutic abortion was performed. The result was identical. Postmortem examination and autopsy showed facial dysmorphism, malformations of the lower extremities and central nervous system anomalies. CONCLUSION: 7q interstitial deletions cause a wide spectrum of congenital abnormalities and syndromes linked to the deleted segments. Our case had a rather wide chromosome region deleted and it is important, because prenatal diagnosis was performed. Thus, the family had the chance to evaluate the situation and decided to terminate the pregnancy after genetic counseling.

A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects.

We describe a patient whose features represent a new entity within the oculo-auriculo-vertebral spectrum. The boy had right microtia, atresia of the external auditory canal, growth retardation, a complex heart defect, and extra-lobar pulmonary sequestration. The cardiac anomalies were persistent left superior vena cava, aortic stenosis, bicuspid aortic valves and subaortic membrane. Spinal films revealed complete fusion of the C2-C3 and C5-C6 vertebrae, and scoliosis of the lumbar spine. The patient's mental development was normal, and there were no abnormalities on ophthalmological examination. This report, reviews features of similar published cases, and argues why this may represent a 'new' entity within the oculo-auriculo-vertebral spectrum. The cardinal features are microtia, atresia of the external auditory canal, complex cardiac defects, growth retardation, normal mental and motor development in most cases and vertebral anomalies. All six of the patients reviewed were male raising the possibility of X-linked inheritance.

Detection and typing of human papillomavirus in non-small cell lung cancer.

BACKGROUND: Lung cancer is the most frequent cause of death in both men and women. Smoking is the greatest risk factor for lung cancer and the relation of human papillomavirus (HPV) infection with lung cancer has been reported. HPV can be detected in small cell lung cancer samples with the methods like in situ hybridization, polymerase chain reaction (PCR), Southern blotting, dot blotting. OBJECTIVE: We aimed to detect and type HPV infection in non-small cell lung carcinoma tissue samples. METHODS: Tumor samples from 40 patients were collected during surgery and PCR and restriction fragment length polymorphism (RFLP) were used in order to detect HPV infection in the samples. RESULTS: Two HPV DNA were detected among 40 of the patients, revealing a low frequency of HPV in the samples. CONCLUSIONS: HPV can be regarded as an environmental factor in tumor development. There might be a relationship between HPV infection and some non-small cell lung cancers, especially in the smoking group.