[Association of LXRbeta rs17373080 polymorphism with obesity and obesity-related phenotypes in an Iranian population]

Liver X receptor Beta [NR1H3] has a pivotal role in carbohydrate and lipid metabolism and is located in an obesity susceptibility region, and genetic variations in it may play a role in etiology of human obesity. This study aims to assess the association of the LXRbeta rs17373080 polymorphism with obesity and related traits. A total of 435 unrelated subjects, including 160 obese, 201 overweight and 74 controls randomly selected from Mashhad city, were enrolled in the present case-control study. The anthropometric and biochemical parameters were measured and DNA samples were genotyped by the TaqMan assay. Allelic and genotypic frequencies showed no significant associations with obesity and related traits, even after age and gender adjustment. By logistic regression using a dominant model, the odds ratios for the obesity were: 0.85 [0.46-1.57] for genotype CG and 1.14 [0.48-2.69] for genotype GG, compared with the genotype CC as a reference. The allelic frequency of the LXRbeta gene variant in whole population and also in three BMI groups was in the Hardy-Weinberg equilibrium. This study revealed no association between LXRbeta rs17373080 polymorphism and the risk of obesity in an Iranian population, suggesting this SNP is not a major contributor to risk of obesity

[One novel PMS2 germline mutation in a patient with hereditary non polyposis colorectal cancer]

Hereditary non polyposis colorectal cancer [HNPCC] is an autosomal dominant syndrome. The cancer appears between 40 and 50 years of age. Mutation in mismatch repair genes can lead to this cancer .One of the genes which is involved in this disease is PMS2 gene. Here, we present a case with a novel germline mutation in PMS2 gene. The aim of this report was to examine PMS2 gene and identify novel germline mutations in this gene. A 77-year-old male with diagnosis of colorectal carcinoma was referred for genetic testing. He suffered from a polyp with a diameter of 6.8 cm in hepatic flexure. The patient did not meet Amsterdam Criteria and Bethesda Guidelines, but screening for HNPCC was performed on account of pathological findings. Blood sample was used for identification of mutation and the paraffin embedded block was prepared for MSI analysis. One mutation in PMS2 gene was detected by analysis of the amplicon sequencing. The mutation was a transitional mutation in position 676 which led to transformation of guanine to adenine resulting in substitution of glutamic acid for glycine. Immunohistochemistry confirmed abnormal expression of PMS2 gene and MSI assay showed instability of sequenced amplicons in this gene

[ frequency of toxigenic strains of Clostridium difficile in hospitalized patients with diarrhea in Tehran/Iran by PCR method, 2010]

Clostridium difficile has been identified as a pathogen in antibiotic associated diarrhea [AAD], pseudomembranous colitis and also nosocomial diarrhea. The present study was performed to find the prevalence of toxigenic strains of C .difficile isolated from diarrhea patients hospitalized in Tehran hospitals. A total of 98 fecal samples obtained during July to December 2010 were studied. Samples were rapidly cultured on the CCFA medium and incubated at the anaerobic conditions. Then ELISA was done to detect toxin A and B in the stool. Molecular identification of C.difficile was done by cdd3 universal primer and toxin A gene [tcdA], toxin B gene [tcdB] and binary toxin profiles were determined by PCR method. From a total of 98 fecal samples, 15 samples [15.3%] were positive of which, 12 strains [21.2%] were A+B+, 2 strains [2%] were A+B-, and 1 strain [1%] was A-B+. This study showed that Clostridium difficile is an important pathogen in the development of nosocomial diarrhea. Therefore, routine detection of C.difficile in suspected cases is recommended

Association of IGF-1 gene [rs5742612] polymorphism with colorectal cancer

Background: Insulin-like growth factor 1 has an important role in cell proliferation and growth. Polymorphism in IGF-1 gene changes the level of this hormone and increases the risk of colorectal cancer. The aim of this study is to assess the incidence of IGF-1 polymorphism rs5742612 in Iranian population and to investigate the influence of this polymorphism in increasing the risk of colorectal cancer

Methods and Materials: Genotyping of IGF-1 gene was performed in a series of 110 colorectal cancer patients and 110 controls by using polymerase chain reaction and restriction fragment length polymorphism genotyping [PCR-RFLP] assays. We calculated odds ratio and confidence interval [CI] of IGF-1 genotypes to determine if these polymorphisms are associated with colorectal cancer

Results: No significant association was found between polymorphism of IGF-1 gene [rs5742612] and increased risk of colorectal cancer [p=0.92]. The odds ratio for the heterozygous genotype CT versus the normal genotype CC was 1.3 [95% CI:0.3-6.27] and the odds ratio for the mutant genotype TT versus the normal genotype CC was 0.0. The frequency of the mutant allele was 2.5%

Conclusion: These findings suggest that IGF-1 rs5742612 polymorphism is not associated with increased risk of colorectal cancer

Association of vitamin D receptor polymorphism [VDR rs 2238136] with colorectal cancer

Many studies have demonstrated that Vitamin D has an important role in cell growth and proliferation and vitamin D receptor polymorphism has significant relationship with colorectal cancer [CRC]. The aim of this study was to assess the incidence of VDR rs 2238136 polymorphism in Iranian population and to investigate the relationship between this single nucleotide polymorphism [SNP] and increased risk of CRC. In this case-control study, genotyping of vitamin D receptor gene polymorphism [VDR rs2238136] was determined in a series of 112 colorectal cancer patients and 112 controls by using polymerase chain reaction and restriction fragment length polymorphism genotyping assays [PCR-RFLP]. Statistical analysis was done through SPSS 16. VDR polymorphism [rs 2238136] had no significant relationship with CRC risk. The result of statistical analysis for the genotype AG compared with GG was OR=0. 59, CI=0.33-1.03 and for AA versus GG was OR=0.8, Ct=0.29-2.17. Incidence of mutant allele in patients and controls did not show significant difference [OR=0.74, CI=0.49 -1.13]. These findings suggest that VDR [rs 2238136] is not associated with increased risk of CRC. Moreover age, sex and smoking are not predisposing factors for increased risk of CRC

Sequence diversity in tRNA gene locus A-L among Iranian isolates of entamoeba dispar

A number of methods for detecting diversity in Entamoeba have been described over the years. In the present study the genetic polymorphism of noncoding locus A-L was analyzed using PCR and sequencing in order to clarify the genotypic differences among E. dispar isolates. A total of 28 E. dispar from patients with gastrointestinal symptoms were determined and the genomic DNA was extracted directly from stool. For genotype analysis; Locus A-L was amplified by PCR and PCR products were sequenced .The sequences obtained were edited manually and aligned using Gene Runner software. With sequencing of PCR products a reliable genetic diversity in size, number and position of the repeat units were observed among the Iranian E. dispar isolates in locus A-L gene. Sequences showed variation in length from 448bp to 507bp and seven distinct types were identified. The genetic diversity of loci like A-L shows them to be suitable for epidemiological studies such as the characterization of the routes of transmission of these parasites in Iran

Intestinal leishmaniasis in acquired immunodeficiency syndrome

In endemic regions, visceral leishmaniasis is one of the most common opportunistic infections in HIV positive patients. Simultaneous infection with Leishmania and HIV has been reported in some countries but this is the first report of such a case in Iran. Our patient was a 27 years old man with intermittent night fever, abdominal pain, loss of appetite, vomiting, watery diarrhea and severe weight loss for 6 months. He had low socio-economic status with an imprisonment history. The patient was quite cachectic and had low grade fever. Physical exam and upper Gl endoscopy revealed oropharyngeal candidiasis. Microscopic evaluation of duodenal biopsy material showed Leishmania amastigotes in macrophages of lamina propria. Leishman bodies were also observed in bone marrow aspiration specimen. Serologic tests were positive for Leishmania infantum. HIV antibody was also positive with a CD4[+]cell count of 807microl. The diagnosis was acquired immunodeficiency syndrome with simultaneous visceral leishmaniasis involving intestinal mucosa

[Molecular determination of Echinococcus granulosus isolated from hydatid cyst using mitoconderial atp6 gene]

Several strains of the Echinococcus granulosus have been described based on morphological characters, intermediate host specificity and/or genetic analysis of mitochondrial and nuclear DNA. The aim of this study was to characterize different E.granulosus isolates by using sequences of mitochondrial atp6 gene. In this study, Sixty infected liver and lungs of cattle, sheep and goats were collected from the abattoir of Varamin city-Iran during 2008. Protoscoleces were removed from each fertile cyst and DNA extracted. New and specific primers were designed for two existing genotypes [G1 and G6] of E. granulosus known to occur in Iran and applied in PCR reactions. The new primers selectively amplified the G1 and G6 genotypes of E. granulosus with specific bands of 708 and 705 bp respectively. The G1 genotype was identified in all fertile cyst samples. This study showed that the new primer pairs which specifically amplify portions of the mitochondrial atp6 gene of the G1 and G6 strains of Echinococcus granulosus are proper molecular marker for investigating genetic variation in a number of isolates of E. granulosus from a range of hosts [sheep, goats, cattle] in Iran. The result of sequenced samples showed that our sequences were the same as those reported previously for these strains

Fatal sepsis by Bacillus circulam in an immunocompromised patient

An immunosuppressed man was admitted to hospital with diarrhea and a history of urinary tract infection. He was subjected to treatment with antibiotics. The patient died of putative severe sepsis. The etiological agent was a carbapenemase producing isolate of Bacillus circulans with resistance to all prescribed antimicrobial agents

Alternative for the Cox regression model: using parametric models to analyze the survival of cancer patients

Although the Cox proportional hazard regression is the most popular model for analyzing the prognostic factors on survival of cancer patients, under certain circumstances, parametric models estimate the parameter more efficiently than the Cox model. The aim of this study was to compare the Cox regression model with parametric models in patients with gastric cancer who registered at Taleghani hospital, Tehran, Iran. In a retrospective cohort study, 746 patients with gastric cancer were studied from February 2003 through January 2007. Gender, age at diagnosis, distant metastasis, extent of wall penetration, tumor size, histology type, tumor grade, lymph node metastasis and pathologic stage were selected as prognosis, and entered to the models. Lognormal, Exponential, Gompertz, Weibull, Loglogistic and Gamma regression were performed as parametric models, and Akaike Information Criterion [AIC] were used to compare the efficiency of the models. Based on AIC, Log logistic is an efficient model. Log logistic analysis indicated that wall penetration and presence of pathologic distant metastasis were potential risks for death in full and final model analyses. In the multivariate analysis, all the parametric models fit better than Cox with respect to AIC; and the log logistic regression was the best model among them. Therefore, when the proportional hazard assumption does not hold, these models could be used as an alternative and could lead to acceptable conclusions

Trend analysis of gastric cancer and colorectal cancer mortality in Iran, 1995-2003

Cancer is the third most common cause of death in Iran. Gastric cancer [GC] and colorectal cancer [CRC] are two important causes of mortality due to cancer. With regards to cancer mortality, data are important to monitor the effects of screening program, earlier diagnosis, demographic data and other prognostic factors. The aim of this study was to evaluate the mortality rates and trends from GC and CRC in Iranian population during a period of almost a decade, i.e. from 1995 to 2003. National death Statistic Reported by the Ministry of Health and Medical Education [MOH and ME] from 1995 to 2003, stratified by age group, sex, and cause of death are included in this study. CRC and GC were expressed as the annual mortality rates/100,000, general and/or per gender, and age group. The general mortality rate of CRC slightly increased during the years under study from 0.44 to 2.54 and CRC mortality was higher for older age and male. The general mortality rates of GC showed a sharp increasing from 1.68 to 9.67. In addition to this, GC mortality rate was higher for male than female. Our study indicated remarkable increasing trends in GC and CRC mortality. So developing for a gastric cancer for both primary prevention and early detection programs and manage the delays of diagnosis is recommended to decrease the trend of GC mortality. For CRC, since the rate of CRC screening is very low in Iran, it is recommended that in Iran screening be started as a public program in order to control the mortality and burden of CRC in the future

Application of artificial neural network in predicting the survival rate of gastric cancer patients

The aim of this study was to predict the survival rate of Iranian gastric cancer patients using the Cox proportional hazard and artificial neural network models as well as comparing the ability of these approaches in predicting the survival of these patients. In this historical cohort study, the data gathered from 436 registered gastric cancer patients who have had surgery between 2002 and 2007 at the Taleghani Hospital [a referral center for gastrointestinal cancers], Tehran, Iran, to predict the survival time using Cox proportional hazard and artificial neural network techniques. The estimated one-year, two-year, three-year, four-year and five-year survival rates of the patients were 77.9%, 53.1%, 40.8%, 32.0%, and 17.4%, respectively. The Cox regression analysis revealed that the age at diagnosis, high-risk behaviors, extent of wall penetration, distant metastasis and tumor stage were significantly associated with the survival rate of the patients. The true prediction of neural network was 83.1%, and for Cox regression model, 75.0%. The present study shows that neural network model is a more powerful statistical tool in predicting the survival rate of the gastric cancer patients compared to Cox proportional hazard regression model. Therefore, this model recommended for the predicting the survival rate of these patients

Family history as a risk for upper gastrointestinal tract cancer: a case control study

Although, family history of cancer is an important risk factor for upper gastrointestinal cancers development, but limited information is available on the upper gastrointestinal cancers associated with family history in Iran. The purpose of this study was to define upper gastrointestinal cancers risk associated with family history of cancer. This study was conducted as a case control study. A total number of 1,010 cases of upper gastrointestinal cancer and 1,010 healthy controls were recruited. For family history of cancer, questions were asked about any malignant tumor in first and second degree relatives. Adjusted odds ratio estimates for the association family history and upper gastrointestinal cancers risk and corresponding 95% confidence intervals were obtained. A family history of any malignant tumor in relatives was associated with 1.3 fold increased risks of upper gastrointestinal cancers. A first-degree family history of esophageal and gastric cancer was significantly associated with upper gastrointestinal cancers development, with an adjusted OR of 4.7 [CI 95%: 2.6-8.4]. Our findings suggested that risk for upper gastrointestinal cancers increases among individuals with family history of cancer. Therefore, appropriate screening strategies especially in relatives of patients should be considered to prevent and control of disease

[Relationship between DNMT1 gene's SNPs and colorectal cancer at Taleghani hospital in Tehran]

The relation between Single Nucleotide Polymorphisms [SNPs] and a number of diseases has triggered many researches. Investigating the possible relations between SNPs present in DNMT1 gene from man's chromosome 19 and colorectal cancer. This was a case/control study in which 100 patients with colorectal cancer, referred to Research Center of Gastroenterology and Liver Diseases of Shaheed Beheshti Medical University during 2008, were chosen as case group. The control group included an equal number of patients who visited the medical center for a variety of reasons. Genetic test was carried out on all patients to determine the type of 6 SNPs of DNMT1 gene from man's chromosome 19. Data were statistically analyzed by SPSS software using chi-square test and logistic regression. All SNPs investigated showed significant relations with colorectal cancer indicating that in all cases the chance of getting colorectal cancer in people with genotype 1 and 2 was much higher than those with genotype 0. by exploring people's SNPs, it is feasible to predict the risk of catching colorectal cancer and thus establishing proper preventive measures

[Effect of interleukin-12 p40 subunit gene 3'-untranslated region polymorphism in chronic HCV infection]

Production of unusual cytokine levels in hepatitis C infection appears to be associated with progression of the disease, persistence of the virus in host, and establishment of chronic disease. Interleukin-12 as a heterodimeric immunoregulating cytokine is important in the generation of a Th1-based immune response. In this study we investigated the role of IL-12B 3'UTR polymorphism in susceptibility to chronic hepatitis C infection. A total of 126 chronic hepatitis C patients and 136 healthy blood donors were genotyped for IL12-p 40-3' UTR polymorphism. Genotyping was carried out by PCR-RFLP method. The results were confirmed by analyzing 10% of the samples by direct sequencing. We found no significant differences in genotype and allele frequencies of the 3'UTR polymorphism between chronic hepatitis C patients and healthy controls. There was no association between IL12B-3'UTR polymorphism and chronic hepatitis C infection. Our study can be useful in regard to the factors regulating IL-12 production, and its consequent impact on chronic hepatitis C infection susceptibility in Iranian population

[Seroepidemiologic study of HAV infection in Tehran province: a population based study]

Hepatitis A is a viral infection which is transmitted via fecal-oral route and its prevalence is directly related to the public health standards. The prevalence rate of this infection is different in different populations. The aim of this study was to determine the prevalence of hepatitis A antibody and assess the need for vaccination against hepatitis A in Tehran Province. This descriptive analytical cross-sectional study was conducted from 2006 to 2007 in Tehran Province. 448 subjects were selected by random cluster sampling. Blood samples were collected and demographic data were recorded in a questionnaire. Anti-HAV antibodies were measured by ELISA competitive method. Chi-square test and student t-test were used for statistical analysis. This study included 287 women and 161 men. Anti-HAV antibody was positive in 405 subjects [90.4%]. There were no significant relationships between HAV seropositivity and different age groups or gender. The results of our study showed a high prevalence of antibody in this region which is compatible with those of WHO results. Our results were similar to those obtained in Zabol City and eastern parts of Golestan Province but were not compatible with the results of the studies from Isfahan and Tabriz. At the present time there is no need for vaccination in this region

Epidemiological differences between colon cancer and rectum cancer

Clinical and epidemiological variation was seen between the colon cancer [CC] and rectum cancer [RC]. So, there is not so much data available about the epidemiological and clinicopathological differences and prognostic factors regarding to CC and CR in Iran, we aimed to perform this study. All cases of CC and RC referred to oncology and gastroenterology wards of Taleghani General Hospital, Teheran, Iran between 2002 and 2008 were retrospectively reviewed. The research group were reviewed all medical records in the study period for collecting the required data. All patients under study were followed up until end day of 2008 [closed day] from their diagnosis. There are 856 cases of CC and 427 cases of RC. Mean survival time of CC cases was relatively higher than RC cases [P <0.05]. Regarding to the age at diagnosis, about 42% of CC and 42.6% of RC patients was diagnosed less than 50 years of age. Positive family history of any cancer was relatively higher in CC [40.0%] patients than RC [31.0%] patients [P<0.05]. significant difference was seen between CC and RC regarding to depth of tumor invasion, pathologic stage and type of first treatment. RC patient were diagnosed in more advanced pathologic stages. Regarding to histology type of tumor 75.0% of CC cases and 79.4% of RC cases was adenocarcinoma. Abdominal pain [74.4%] and blood per rectum [89.7%] were the most prevalent symptoms mentioned by patients for CC and RC, respectively. Distant metastasis, lymph node metastasis, lower BMI and poor grading of tumor was related to increased risk of death due to CC. Regarding to RC, only pathologic stage was determine as prognostic factor. Results of this study emphasis that RC has a poorer prognosis comparing to CC. Up to 42 percent of patients with CC and RC are lower than 50 years of age. Patterns of CC versus RC indicate major variations in demographic and clinicopathologic characteristics that suggest possible differences in etiology and pathogenesis. So we suggest that for the analysis of cancer data, CC and RC should be investigated as separate cancers and not to be as colorectal cancer. Abdominal pain and blood per rectum should be emphasis for detection of CC and RC, respectively

Prevalence of positive family history of colorectal cancer in the Iranian general population

Individuals with a positive family history of colorectal cancer have an increased risk of developing this type of cancer. The number of affected relatives and the age at diagnosis are two factors that increase the risk of colorectal cancer. The aim of this study was to assess the prevalence of a positive family history of colorectal cancer in a random sample among the Iranian general population. Five thousand five hundred [5500] subjects' aged>/-20 years were randomly selected by cluster sampling and invited to participate in an interview about the occurrence of colorectal cancer in their first- or second-degree relatives. Of all the responders, 162 [2.9%] subjects reported a positive family history of colorectal cancer; 71 [1.24%] reported having one first-degree relative with colorectal cancer diagnosed before the age of 50; or reported two or more first-degree relatives with colorectal cancer. In addition, 83 [1.51%] and 14 [0.25%] subjects reported having one and two or more second-degree relatives with colorectal cancer respectively. The prevalence of a positive family history of colorectal cancer in Iran is lower than the United States and European countries. Identifying high-risk population for colorectal cancer and encouraging them to participate in surveillance protocols is the first step in targeting preventive measures

Prevalence and associated factors of persistent diarrhoea in Iranian children admitted to a paediatric hospital

To identify the frequency and associated factors of persistent diarrhoea in a paediatric hospital in Tehran, Islamic Republic of Iran, children admitted with acute diarrhoea were followed prospectively until resolution of the episode. Persistent diarrhoea developed in 19.6% of the 424 diarrhoea cases. Children with persistent diarrhoea were significantly younger than those with acute diarrhoea [15.3 versus 29.4 months]. Enteroaggregative Escherichia coli was the most prevalent pathogen in both groups, but otherwise the profile of symptoms and isolated organisms was similar in the 2 groups. History of dietary change prior to admission and use of antibiotics and anticholinergic drugs in the acute phase were significantly higher in the persistent than acute diarrhoea cases