Factor XIIIA-V34L and factor XIIIB-H95R gene polymorphisms in Shahrekord, 2010, I.R.Iran

زمینه و هدف: تعدادی از پلی مورفیسم­های ارثی فاکتور های انعقادی با پاتوژنز ترومبوآمبولی وریدی و سایر پیامد­های جانبی آن ارتباط دارد. با توجه به اینکه اطّلاعات محدودی از فراونی این پلی مورفیسم­ها در جمعیّت­های ایرانی در دست است، لذا این مطالعه با هدف بررسی دو مورد از پلی مورفیسم­های فاکتور 13 یعنی XIIIA - V34L و XIIIB-H95R در جمعیّت سالم انجام شد. روش بررسی: در این مطالعه مقطعی 150 فرد سالم اهداکننده خون در شهر شهرکرد که سابقه­ای از ترومبوآمبولی وریدی نداشتند، شرکت کردند. تعیین ژنوتیپ با خون وریدی گرفته شده با EDTA برای پلی مورفیسم­های مورد نظر با روش PCR-RFLP انجام شد. یافته ها: 51 مورد (34) هتروزیگوت VL و و 8 نفر هموزیگوت LL برای زیر واحد A َ فاکتور 13 بودند. 26 نفر (33/17) و 1 نفر (67/0) به ترتیب هتروزیگوت و هموزیگوت RH و RR از زیرواحد B فاکتور 13 بودند. 67/48 از افراد مورد مطالعه حداقل یکی از پلی مورفیسم های فوق را دارا بودند و موردی از هموزیگوت هر دو پلی مورفیسم با یکدیگر وجود نداشت. نتیجه گیری: فراوانی پلی مورفیسم های مورد مطالعه ی فاکتور 13 در افراد سالم تا حدی مشابه نتایج موجود از نژاد قفقازی و کاملاً متفاوت از نتایج مطالعات محدود انجام شده در چین و نیز در سیاهپوستان بود. این موضوع می تواند به شباهت ها یا تفاوت های موجود بین نژاد های مختلف نسبت داده شود

GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations

Mutations in the GJB2 gene are a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) in many populations. Previous studies have estimated the average frequency of GJB2 mutations to be ∼16% in Iran, but would vary among different ethnic groups. Here, we have taken together and reviewed results from our two previous publications and data from searching other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in central Iran. In all, 332 unrelated families were included and analyzed for the prevalence and type of the GJB2 gene mutations. In total, the frequency of GJB2 mutations was found to be 16% in the central provinces, which is significantly higher than those identified in southern populations of Iran. Also, c.35delG was the most frequent mutation in the related population. The present study suggests that mutations in the GJB2 gene, especially c.35delG, are important causes of HL in central Iran and can be used as a basis of genetic counseling and clinical guidelines in this region. keywords: clinical guidelines, GJB2, Iranian population, nonsyndromic hearing los

The role of Th1 and Th17 cells in glomerulonephritis.

CONTEXT T helper (Th) cells as an important part of the immune is responsible for elimination of invading pathogens. But, if Th cell responses are not regulated effectively, the autoimmune diseases might develop. The Th17 subset usually produces interleukin-17A which in experimental models of organ-specific autoimmune inflammation is very important. EVIDENCE ACQUISITIONS Directory of open access journals (DOAJ), Google Scholar, Embase, Scopus, PubMed and Web of Science have been searched. RESULTS Fifty-six articles were found and searched. In the present review article, we tried to summarize the recently published data about characteristics and role of Th1 and Th17 cells and discuss in detail, the potential role of these T helpers immune responses in renal inflammation and renal injury, focusing on glomerulonephritis. Published papers in animal and human studies indicated that autoimmune diseases such as rheumatoid arthritis and multiple sclerosis, classically believed to be Th1-mediated, are mainly derived from a Th17 immune response. Identification of the Th17 subgroup has explained seemingly paradoxical observations and improved our understanding of immune-mediated inflammatory responses. CONCLUSIONS Secretion of IL-17A, as well as IL-17F, IL-21, IL-22, suggests that Th17 subset may play a crucial role as a pleiotropic pro-inflammatory Th subset. There is experimental evidence to support the notion that Th1 and Th17 cells contribute to kidney injury in renal inflammatory diseases like glomerulonephritis

GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations

Mutations in the GJB2 gene are a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) in many populations. Previous studies have estimated the average frequency of GJB2 mutations to be similar to 16% in Iran, but would vary among different ethnic groups. Here, we have taken together and reviewed results from our two previous publications and data from searching other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in central Iran. In all, 332 unrelated families were included and analyzed for the prevalence and type of the GJB2 gene mutations. In total, the frequency of GJB2 mutations was found to be 16% in the central provinces, which is significantly higher than those identified in southern populations of Iran. Also, c.35delG was the most frequent mutation in the related population. The present study suggests that mutations in the GJB2 gene, especially c.35delG, are important causes of HL in central Iran and can be used as a basis of genetic counseling and clinical guidelines in this region. Keywords Author Keywords:clinical guidelines; GJB2; Iranian population; nonsyndromic hearing los

Correlation between expression levels of mRNA IL-6 and H. pylori-infected patients with cagA

BACKGROUND AND OBJECTIVE: Helicobacter pylori (H. pylori) infection is associated with marked infiltration inflammatory cells such as neutrophil, macrophage and H. pylori-specific T and B cell in the gastric mucosa. The molecular pathways that control H. pylori-associated inflammatory reaction are complex, but locally induced cytokines seem to contribute to maintaining the ongoing inflammation. The purpose of this study was to evaluate IL-6 gene expression in the H. pylori-infected and uninfected gastric patients and correlation it’s with cagA among H. pylori infected patients. METHODS: This study is case - control. Biopsies were collected from 58 H. pylori-infected patients and 44 uninfected. Mucosal IL-6 mRNA levels were measured by real-time PCR. Presence of cagA virulence factor was evaluated using PCR. Cytokine expression is presented as means and differences between infected and non-infected groups were analysed using the T-Test test. FINDINGS: The IL-6 mRNA expression levels were significantly more elevated in H. pylori-positive patients than uninfected. There was no association between cagA virulence factor in H. pylori-infected patients and IL-6 mRNA expression. Conclusion: The enhanced induction of IL-6 may be independent cagA virulence factor involved in the pathogenesis of H. pylori-associated gastritis

Role of Regulatory T-cells in Different Clinical Expressions of Helicobacter pylori Infection

Helicobacter pylori (H. pylori) colonization induces vigorous innate and specific immune responses; however, the infection does not disappear and a chronic active gastritis continues if left untreated. It has been shown that the topographical pattern and immune response of gastritis are the main reasons for the bacteria persistence and the clinical outcome. Gastritis due to H. pylori is caused by a complicated interaction among a variety of T cell subsets. Regulatory T (Treg) cells suppressing the immune response of antigen-specific T-cells have recently been demonstrated to play a key role in chronic inflammation by immunologic tolerance. Treg cells have been identified as the major regulatory component of the adaptive immune response and being involved in H. pylori-related inflammation and bacterial persistence. There have been many controversies over the role of Treg cells in H. pylori infection. Many studies have shown that the local Treg response protects the gastric mucosa from intensified inflammation and tissue damage, and the risk of H. pylori-associated diseases has an inverse correlation with Treg accumulation, even if the decrease in the inflammatory response is recognized by Treg it causes increase in bacterial density. This paper reviews the role of Treg in different clinical expressions of H. pylori infection. © 2016 IMS

The biological functions of IL-17 in different clinical expressions of Helicobacter pylori-infection

Helicobacter pylori (H. pylori) infection is regarded as the major cause of various gastric diseases (gastritis, peptic ulcers and gastric cancer) and induces the production of several cytokines. Interleukin-17 (IL-17) is recently recognized as an important player in the pathophysiology of infectious and immune-mediated gastrointestinal diseases. Helicobacter pylori infection increases IL-17 in the gastric mucosa of humans. IL-17 usually causes secretion of IL-8 through activation of ERK 1/2 MAP kinase pathway. The released IL-8 attracts neutrophils promoting inflammation. T regulatory cells (Tregs) suppress the inflammatory reaction driven by IL-17, there by favoring bacterial persistence in Helicobacter pylori-infection. The pathogenesis of Helicobacter pylori-induced inflammation is not well understood. Inflammation is promoted by both host factors and Helicobacter pylori factors, such as the proteins cytotoxin associated gene A (cagA) and vacuolating cytotoxin A (vacA). IL-1 beta, IL-6, tumor necrosis factor (TNF)-alpha, TGF-beta 1, IL-17, IL-18, IL-21 and IL-22 have been reported to be involved in Helicobacter pylori-induced gastric mucosal inflammation, but the details and relation to different patterns of inflammation remain unclear. Numerous studies have demonstrated important functions of IL-17 in acute and chronic inflammatory processes. This paper reviews the role of IL-17 in gastritis, peptic ulcers and gastric cancer related to Helicobacter pylori. (C) 2015 Elsevier Ltd. All rights reserved

Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations

Diagnosis of pre-lingual hearing loss (HL) is difficult owing to the high number of genes responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2 gene. It represents up to 40% of HL cases in some populations. In Iran, it has previously been shown that DFNB1 accounts for 16-18% of cars but varies among different ethnic groups. Here, we reviewed results from our three previous publications and data from other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in northern Iran. In total, 903 unrelated families from six different provinces, viz., Gilan, Mazandaran, Golestan, Ghazvin, Semnan, and Tehran, were included and analyzed for the type and prevalence of GJB2 mutations. A total of 23 different genetic variants were detected from which 18 GJB2 mutations were identified. GJB2 mutations were 20.7% in the studied northern provinces, which was significantly higher than that reported in southern populations of Iran. Moreover, a gradient in the frequency of GJB2 mutations from north to south Iran was observed. c.35delG was the most common mutation, accounting for 58.4% of the cases studied. This study suggests that c.35delG mutation in GJB2 is the most important cause of HL in northern Iran. Keywords Author Keywords:Genetic counseling; Gap junction protein beta 2; Hearing loss; GJB2 insertion KeyWords Plus:CONGENITAL DEAFNESS; PREVALENCE; FAMILIES; GENES; IDENTIFICATION; IMPAIRMENT; 35DELG; ARNSHL; SOUT

The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness

Objective: To determine the prevalence and types of SLC26A4 mutations and the relevant phenotypes in a series of Iranian deaf patients. Design: A descriptive laboratory study. Study sample: One hundred and twenty-one families including 60 unrelated patients and 61 unrelated multiplex families with autosomal recessive deafness were included. In the 61 multiplex families, linkage was conducted for short tandem repeats (STRs) of the DFNB4. Selected individuals from the linked families and all of the 60 deaf individuals were subjected to sequencing of SLC26A4. Results: Seven out of the 61 (11.5%) families were linked to the locus which upon further inquiry led to identification of eight different mutations. Also, five out of the 60 (8.3%) patients were positive for the mutations. The SLC26A4 mutations clarified in 9.1% (12 families) of total investigated alleles included: c.2106delG, c.65-66insT, c.881-882delAC, c.863-864insT, c.1226G>A, c.1238A>G, c.1334T>G, c.1790T>C, c.1489G>A, c.919-2A>G (IVS7-2A>G), c.1412delT, and c.1197delT. Six out of 12 (50%) families with mutations were confirmed to be Pendred syndrome (PS). Conclusions: The results probably suggest a high prevalence and specificity of SLC26A4 mutations among Iranian deaf patients. Molecular study of SLC26A4 may lead to elucidation of the population-specific mutation profile which is of importance in diagnostics of deafness

Clinical relevance of Helicobacter pylori virulence factors in Iranian patients with gastrointestinal diseases

Helicobacter pylori (H. pylori) usually colonizes the gastric mucosa of more than 50% of the human population, causing an infection that may appear in early childhood and can persist for life. H. pylori is suggested as the main cause of peptic ulcer and chronic gastritis. It is also associated with gastric cancer. Its severity and symptoms depend on environmental factors, host susceptibility and bacterial components, which allow H. pylori to switch between commensalism and pathogenicity. H. pylori is genetically highly variable, and the variability which affects H. pylori virulence factors might be useful in identifying the strains with different degrees of pathogenicity. The geographic distribution of distinct H. pylori genotypes is largely unknown and should be established. The prevalence of more pathogenic genotypes in certain areas may have important epidemiological consequences. It also might be associated with the severity of H. pylori related diseases in such regions. Given that Iran is located in the Middle East and Asian populations have revealed high levels of gastric cancer, it is of clinical interest to clarify the potential of H. pylori virulence markers in predicting the associated clinical outcomes. In this review, clinical relevance of adhesion molecules and significant virulence factors of H. pylori in Iranian patients with gastrointestinal diseases are discussed in comparison to other countries