ObjectivesLynch syndrome (LS), a genetically inherited autosomal disorder, increases the incidence of colorectal carcinoma (CRC). We aimed to perform a universal strategy to assess the prevalence and clinicopathological characteristics of early onset CRCs at high risk of LS versus late-onset ones in the Iranian population.SettingA local population-based study from Northeastern Iran.Participants321 consecutive CRCs and pathology specimen screened between 2013 and 2016.Primary and secondary outcome measuresRetrospectively, information regarding the clinical criteria was obtained by interviewing the patients with CRC or, their families. Pathologists tested tumours with immunohistochemistry (IHC) staining of four mismatch repair (MMR) proteins (MLH1, MSH2, MSH6 and PMS2). Tumours with absent IHC staining of MLH1 were tested for BRAF mutations to exclude sporadic CRCs. Prevalence of early onset CRCs at high risk of LS and familial CRC type X were assessed as primary and secondary outcome measures, respectively.ResultsOf 321 CRCs (13/123 (10.57%), early onset vs 21/198 (10.6%) late-onset) were detected to be MMR-deficient (dMMR). Nine early onset cases and 14 late-onset ones with a loss of MLH1 underwent testing for the BRAF mutation, none of the early onset and four (2.02%) late-onset were recognised as sporadic. The difference in the outcome of IHC-analysis between early and late-onset CRCs at high risk of LS was not statistically significant (p=0.34). Majority of the suspected LS tumours from early onset patients had arisen in distal part (8/11 (72.72%) vs 8/14 (57.14%)), all of which were occurred in the rectum or sigmoid.ConclusionClinically, these findings suggest that in case of limitation for BRAF testing, the practitioner in Iran may consider managing early onset dMMR cases like LS until access to BRAF testing becomes available to them, before germline testing to accurately diagnose LS.

Background: Metabolic syndrome (MS) and non-alcoholic fatty liver disease (NAFLD) is a common public health problem. Visfatin is secreted by visceral adipose tissue and is an adipocytokine. It could be a pro-inflammatory adipocytokine and is related to the metabolic syndrome and non-alcoholic fatty liver disease. This study evaluated the association between visfatin levels in patients with the metabolic syndrome with and without non-alcoholic fatty liver disease (NAFLD). Methods: In this cross-sectional study, 120 patients with metabolic syndrome were selected. They were categorized into two groups, patients with fatty liver (n=70) and without fatty liver disease (n=50). Laboratory and anthropometric options such as age, sex, systolic blood pressure, fasting blood sugar, lipid profile, liver enzymes, uric acid, visfatin, insulin, BMI, waist circumference, and TNF-α were measured. The chi-square test, Mann-Whitney, t test, Spearman and Pearson correlations were used for the data analysis. Results: There was a significant difference between the fatty liver and non-fatty liver disease with visfatin, BMI, FBS and lipid profile (p<0.05). The mean±SD level of visfatin was 37.1±1.7 ng/dl in the non-fatty liver and was 44.4±1.5 ng/dl in fatty liver participants (p=0.02). 59% of patients with metabolic syndrome had fatty liver in ultrasonography. Conclusion: According to this study, there was a correlation between visfatin levels and fatty liver disease.

BACKGROUNDDuodenal biopsy is required for diagnosis of celiac disease in adults, although some studies have suggested adequate accuracy of serology alone.Objective: We aimed to assess the correlation between anti-tissue transglutaminase (tTG) titer and pathological findings and to define the specific level of tTG for predicting celiac disease in adults without the need for biopsy sampling.METHODSThis descriptive study was done on 299 participants. The tTG titer and pathological findings of duodenal biopsy samples were used for this study. Analysis of Receiver operating characteristic (ROC) curve was used to find a cut-off point of anti-tTG antibody for mucosal atrophy.RESULTSMean tTG titers was significantly higher in patients graded as Marsh III≥ 3 (p=0.023). ROC curve analysis showed 89.1% sensitivity for cut-off point≥76.5 IU/mL of anti-tTG. For Marsh≥ II, specificity was 28% and positive predictive value was 91%.CON CLUSIONThere is a linear correlation between increasing tTG level and Marsh I to III. Specificity of tTG titer more than 200 was 100% for Marsh >2.

BACKGROUNDDelay in diagnosis of celiac disease (CD) occurs frequently, although its consequences are mostly not known. One of the presented symptoms in pediatric patients with CD is the short stature. However, far too little attention has been paid to physical features including height of adult patients with CD. This study was undertaken to evaluate whether patients suffering from CD are shorter in comparison with the general population without CD. As well, we evaluated probable correlations between demographic and physical features, main complains, serum anti tTG level, and intestinal pathology damage between short (lower quartile) versus tall stature (upper quartile) patients with CD.METHODSThis was a retrospective cross-sectional study on 219 adult patients diagnosed as having CD in the Celiac Disease Center, between June 2008 and June 2014 in Mashhad, Iran. The exclusion criteria were ages less than 18 and more than 60 years. Height was compared with a group of 657 age- and sex matched control cases from the healthy population. The probable influencing factors on height such as intestinal pathology, serum level of anti-tissue transglutaminase(anti-tTG), serum vitamin D, and hemoglobin level at the time of diagnosis were assessed and were compared in short (lower quartile) versus tall stature (upper quartile) patients with CD.RESULTS Both male (n=65) and female (n=154) patients with CD were shorter than their counterpart in the general population (males: 168.5±8.6 to 171.3±7.2cm, p <0.01 and females: 154.8±10.58 to 157.8±7.2 cm, p <0.01). Spearman linear correlation showed height in patient with CD was correlated with serum hemoglobin (p <0.001, r=0.285) and bone mineral density (p<0.001) and not with serum vitamin D levels (p =0.024, r=0.237), but was not correlated with anti-tTG serum levels (p=0.97). CD patients with upper and lower quartile of height in men and women had no significant difference in the anti-tTG level and degree of duodenal pathology(Marsh grade). Anemia as main complaint was more prevalent in shorter versus taller men.CONCLUSIONAdults with CD are shorter compared with healthy adults. There is a direct correlation between height and anemia and bone mineral density. This finding highlights the importance of early detection and treatment of CD.

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