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Nabavi M.,Tehran University of Medical Sciences | Arshi S.,Tehran University of Medical Sciences | Bemanian M.H.,Tehran University of Medical Sciences | Aghamohammadi A.,Tehran University of Medical Sciences | And 23 more authors.
Allergologia et Immunopathologia

Purpose: The aim was to describe the clinical manifestations, complications and long-term outcome of a cohort of Iranian patients with primary immune deficiency (PID). Method: We retrospectively studied the demographic, clinical and immunological characteristics of the PID patients in a single tertiary centre, from January 1989 to July 2014. The patients were classified according to the International Union of Immunological Societies Expert Committee on PID. Results: 98 patients were diagnosed with and followed-up for 15 disorders. The mean age at onset and diagnosis and the diagnostic delay were 8. ±. 10, 14.2. ±. 13.1 and 6.1. ±. 7 years, respectively. Parental consanguinity rate was 57%. Predominantly Antibody Deficiency was the most common diagnosis (n = 63), followed by congenital defects of phagocytes (n = 16), combined immunodeficiencies (n = 12), well defined syndromes (n = 4) and defects in innate immunity (n = 3). Recurrent sinopulmonary infection was the most common presentation. Active infections were treated appropriately, in addition to prophylactic therapy with IVIG and antimicrobials. Not all the patients were compliant with prophylactic regimens due to cost and unavailability. One SCID patient underwent successful bone marrow transplantation. The total mortality rate was 19% during the follow-up period (7.8. ±. 7.6 years). The mean age of living patients at the time of study was 23. ±. 11.7 years. Conclusions: Physicians awareness of PID has been rising dramatically in Iran, ensuring an increasing number of patients being diagnosed and treated. More effective treatment services, including health insurance coverage and drug availability are needed to improve the outcome of PID patients. © 2016. Source

HajiMaghsoudi O.,Shahid Beheshti University | Talebpour A.,Shahid Beheshti University | Soltanian-Zadeh H.,University of Tehran | Soleimani H.A.,Digestive Disease Research Institute
IST 2012 - 2012 IEEE International Conference on Imaging Systems and Techniques, Proceedings

Wireless capsule endoscopy (WCE) is a new device which investigates the entire gastrointestinal (GI) and especially small bowel. About 55000 frames are recorded in an examination for a capsule which captures two frames per second. Thus, it is essential to find an automatic and intelligent method to help physicians. The WCE videos have lots of uninformative parts (such as extraneous matters, bubbled, and dark part), so preprocessing is necessary to separate these uninformative regions in a frame or reduce frames' numbers. In this paper, we introduce two novel methods to detect automatically uninformative parts. In order to achieve this goal, we use two Mathematical Morphological operations, sigmoid function as a method to segment regions, statistic features, Gabor filters, fisher score test to reduce number of features, neural network and discriminators in color space. Our experimental studies indicates that precision, sensitivity, accuracy, and specificity are respectively 96.13%, 95.30%, 96.35% and 97.00% in the first method, and 90.17%, 95.68%, 93.72%, and 92.71%, respectively in the second method. © 2012 IEEE. Source

Liu J.Z.,Wellcome Trust Sanger Institute | Van Sommeren S.,University of Groningen | Huang H.,Harvard University | Ng S.C.,Chinese University of Hong Kong | And 37 more authors.
Nature Genetics

Ulcerative colitis and Crohn's disease are the two main forms of inflammatory bowel disease (IBD). Here we report the first trans-ancestry association study of IBD, with genome-wide or Immunochip genotype data from an extended cohort of 86,640 European individuals and Immunochip data from 9,846 individuals of East Asian, Indian or Iranian descent. We implicate 38 loci in IBD risk for the first time. For the majority of the IBD risk loci, the direction and magnitude of effect are consistent in European and non-European cohorts. Nevertheless, we observe genetic heterogeneity between divergent populations at several established risk loci driven by differences in allele frequency (NOD2) or effect size (TNFSF15 and ATG16L1) or a combination of these factors (IL23R and IRGM). Our results provide biological insights into the pathogenesis of IBD and demonstrate the usefulness of trans-ancestry association studies for mapping loci associated with complex diseases and understanding genetic architecture across diverse populations. © 2015 Nature America, Inc. All rights reserved. Source

Jamali R.,Digestive Disease Research Institute | Arj A.,Shahid Beheshti Hospital | Razavizade M.,Shahid Beheshti Hospital | Aarabi M.H.,Kashan University of Medical Sciences
Medicine (United States)

Considering limitations of liver biopsy for diagnosis of nonalcoholic liver disease (NAFLD), biomarkers' panels were proposed. The aims of this study were to establish models based on serum adipokines for discriminating NAFLD from healthy individuals and nonalcoholic steatohepatitis (NASH) from simple steatosis. This case-control study was conducted in patients with persistent elevated serum aminotransferase levels and fatty liver on ultrasound. Individuals with evidence of alcohol consumption, hepatotoxic medication, viral hepatitis, and known liver disease were excluded. Liver biopsy was performed in the remaining patients to distinguish NAFLD/NASH. Histologic findings were interpreted using "nonalcoholic fatty liver activity score." Control group consisted of healthy volunteers with normal physical examination, liver function tests, and liver ultrasound. Binary logistic regression analysis was applied to ascertain the effects of independent variables on the likelihood that participants have NAFLD/NASH. Decreased serum adiponectin and elevated serum visfatin, IL-6, TNF-A were associated with an increased likelihood of exhibiting NAFLD. NAFLD discriminant score was developed as the following: [(-0.298∗adiponectin) \+ (0.022∗TNF-a) \+ (1.021∗Log visfatin) \+ (0.709∗Log IL-6) \+ 1.154]. In NAFLD discriminant score, 86.4% of original grouped cases were correctly classified. Discriminant score threshold value of (-0.29) yielded a sensitivity and specificity of 91% and 83% respectively, for discriminating NAFLD from healthy controls. Decreased serum adiponectin and elevated serum visfatin, IL-8, TNF-A were correlated with an increased probability of NASH. NASH discriminant score was proposed as the following: [(-0.091∗adiponectin) \+ (0.044∗TNF-a) \+ (1.017∗Log visfatin) \+ (0.028∗Log IL-8)-1.787] In NASH model, 84% of original cases were correctly classified. Discriminant score threshold value of (-0.22) yielded a sensitivity and specificity of 90% and 66% respectively, for separating NASH from simple steatosis. New discriminant scores were introduced for differentiating NAFLD/NASH patients with a high accuracy. If verified by future studies, application of suggested models for screening of NAFLD/NASH seems reasonable. © 2016 Wolters kluwer Health, Inc. All rights reserved. Source

Nasseri-Moghaddam S.,Digestive Disease Research Institute | Nasseri-Moghaddam S.,Tehran University of Medical Sciences | Nasseri-Moghaddam S.,Sasan Alborz Research Institute | Nokhbeh-Zaeem H.,Digestive Disease Research Institute | And 9 more authors.
Digestive Diseases and Sciences

Background: Despite the rich literature on GERD, its cause and reason for increased prevalence remain obscure. Currently accepted mechanisms leave many questions unanswered. Nitrite chemistry at the GEJ is well described for carcinogenesis. Recent epidemiological and animal data have linked nitrates to GERD. "Nitrate reductase" of oral bacteria converts nitrates to nitrites. We hypothesized that nitrate reductase activity is higher in patients with erosive GERD, delivering more nitrite at the gastroesophageal-junction for a given nitrate intake. Aim: To compare oral nitrate reductase activity of erosive GERD patients with controls. Methods: Patients with erosive GERD and controls without GERD were enrolled. After overnight fasting, nitrite of oral cavity contents was measured at 1-min intervals for 3 min while incubating a 10-mg nitrate-N/L solution in the mouth. Nitrate reductase activity was calculated and compared between groups. Results: Eleven cases (ten males, mean age: 42.6 ± 11.7 year) and ten controls (eight males, mean age: 37.6 ± 9.2 year) were enrolled. Mean nitrate reductase activity was 3.23 ± 0.99 vs. 2.30 ± 0.83 "μg nitrite-N formed/person/ minute" in cases and controls, respectively (p = 0.03). Conclusions: Oral nitrate reductase activity in erosive GERD patients is higher than controls. Therefore, any dietary nitrate load generates more nitrite in these patients. This excess nitrite at the gastroesophageal junction, may potentially contribute to the development of GERD. This is the first report linking oral nitrite production to erosive GERD in man. We suggest that a "nitrate hypothesis" may answer yet unanswered questions about GERD pathogenesis. If confirmed, it may change our understanding of mechanisms of GERD and provide novel therapeutic targets. © 2011 Springer Science+Business Media, LLC. Source

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