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The pattern of knowledge-based production has recently changed economic and social relations. If one wants to use the benefits of this pattern, they have to pay serious attention to the production, distribution, and dissemination of knowledge; in this regard, Leading Knowledge (LK) plays a vital role in developing areas. However, since government budgets have to be spent for public, especially for science and technology which are too expensive, it is impossible to experience the simultaneous advancement in all branches of knowledge. This qualitative and descriptive analysis adopts an applied approach, and tries to identify the LK of the agricultural sector in Kermanshah province, Iran. First, the initial list of LK and Analytic Hierarchy Process (AHP) method based on key technology techniques were prepared through reviewing documents and surveys, i.e. interviews and a panel of experts. In-depth and purposeful interviews were also adopted to extract experts' opinions. Finally, data were analyzed by a panel of experts using the Analytic Hierarchy Process in Expert Choice (EC) software. The results showed that water engineering (0.223), horticultural Science (0.196), and biotechnology (0.138) were listed in order of priority in Kermanshah province. The results can be helpful in revising the educational policies of universities and research centers at the province level, allocating limited resources to the relevant government organziations, Agriculture Jihad and related research centers, and determining the policy of science and technology park and agricultural research centers at the national level. [ABSTRACT FROM AUTHOR]

Aim: This study investigated the prevalence of sapovirus infections in patient with acute gastroenteritis in Tehran¡ Iran.Background: Sapovirus¡ a member of the family Caliciviridae is one of the major causative agents of viral gastroenteritis affecting both children and adult individuals. There isn't enough data about prevalence and genotypes of sapovirus infection in Tehran¡ the capital city of Iran.Patients and methods: A total of 42 fecal samples were collected from patients with acute gastroenteritis from May to July 2009. RT nested- PCR was performed for screening. To genotype the sapovirus isolates¡ some positive samples were subjected to phylogenetic analysis by sequencing of fragments of viral capsid gene region.Results: Sapovirus was detected in 5 of 42 stool specimens from patients with acute gastroenteritis. Sapovirus detected in this study was clustered into only one distinct genogroup I/2. Sapovirus GI/2 was predominant.Conclusion: Our results show that among the studied viruses responsible for this disease¡ sapovirus was a major viral isolate virus. [ABSTRACT FROM AUTHOR]

A doença de Paget extramamária (DPE) é uma condição neoplásica incomum observada principalmente em áreas com numerosas glândulas apócrinas e écrinas. Na mulher é mais comum na vulva, embora possa ocorrer em outros locais. A doença de Paget vulvar (DPV) pode ser classificada em primária, de origem cutânea, e secundária, de origem extracutânea, com significado clínico e implicações prognosticas importantes. Clinicamente a DPV começa insidiosamente com prurido e sensação de queimação. A lesão surge como uma placa isolada com superfície eczematosa, eritematosa e descamativa. Relatamos o caso de uma paciente de 72 anos com lesão eritematosa em placa, levemente espessada, com áreas de erosão envolvendo os grandes e os pequenos lábios à direita e à esquerda, o clitóris, o púbis e as regiões perineal e perianal. A cirurgia realizada foi vulvectomia radical com linfadenectomia inguinal. O histopatológico revelou doença de Paget invasiva. Métodos imuno-histoquímicos mostraram células de Paget positivas para CEA, EMA e citoceratina pan. A patogênese e o diagnóstico da DPE são discutidos, assim como os diagnósticos diferenciais e as referências com métodos imuno-histoquímicos. A recidiva ocorre em 30% dos casos, mesmo com o controle adequado da margem cirúrgica. A experiência com DPV é limitada e o seguimento é requerido para excluir recidivas e o desenvolvimento de um câncer associado.Extramammary Paget's disease (EPD) is an uncommon neoplasic condition observed mostly in areas with numerous apocrine and or eccrine glands. In the woman it is most commonly seen on the vulva, although it can occur in other locations. Vulvar Paget's disease (VPD) can be classified into primary, of cutaneous origin, and secondary, of extracutaneous origin, with significant clinical e prognostic implications. Clinically VPD begins insidiously with pruritus and burning sensation. The lesion appears as a solitary patch with an eczematous, erythematous and squamous surface. This is a report of a case of a 72-year-old patient with an erythematous slightly thickened patch lesion with spots of erosion involving both the right and the left majus and minus labia, the clitoris, the pubic region, and the perineal and perianal regions. The operation performed included radical vulvectomy and bilateral inguinal lymphadenectomy. The histopathology revealed invasive Paget's disease. Immunohistochemical methods showed positive Paget cells for CEA, EMA, and cytokeratin pan. Pathogenesis and diagnosis of EPD is discussed, with differential diagnosis and reference to immunohistochemical methods. Recurrence rate is 30%, even with margin control. Experience with EPD is limited and long-term follow-up is required to exclude recurrence of the disease and development of an associated cancer.

Background and Aims: Hepatitis B virus (HBV) infection is a global health problem, with more than 350 million people chronically infected worldwide. Previous studies revealed that ayw2 is the predominant subtype in Iran. There are also some reports on other HBV subtypes including ayw1, ayw3 and ayw4 which are widespread subtypes of genotype D. In this study, we reported an exceptional and extremely rare subtype of HBV genotype D in an Iranian patient chronically infected with HBV who was also co-infected with hepatitis delta virus (HDV). Methods: The HBV and HDV genotypes and sub-genotypes were determined by polymerase chain reaction (PCR) followed by direct sequencing and phylogenetic analysis. The HBV subtype was determined from the amino acid sequence of the region of viral genome encoding the hepatitis B surface antigen (HB5Ag). Results: Phylogenetic analysis based on the HBV S gene revealed that the patient was infected with HBV genotype D and sub-genotype Dl. Further amino acid mapping on the amino acid of the HBV S gene sequence showed that the patient who was chronically infected with HBV was infected by an unusual subtype "ayr" of the virus which is not typical for the genotype D of HBV. HDV phylogenetic analysis also revealed that the patient was co-infected with HDV cladel. Conclusions: The results indicated the presence of the uncommon subtype "ayr" of HBV genotype D in Iran. This may show that the virus is going further evolution by changing its genome, though the importance of this atypical subtype in genotype D of HBV is still not clear and needs longitudinal studies. [ABSTRACT FROM AUTHOR]

Objective: Colorectal cancer (CRC) is a diverse and multifaceted disease characterized by genetic and epigenetic changes that contribute to tumor initiation and progression. CRC pathophysiology has been linked to the deregulation of the Wnt signaling pathway and the ten-eleven translocation (TET) DNA demethylases. This study aimed to evaluate the expression level of selective miRNAs (miR-200 and miR-494), TET1, and Wnt1 in colorectal polyps, actual colorectal tumors, and normal adjacent tissues. We also evaluated the effect of 5-aza cytidine on the expression level of TET1 and wnt1 in the HT29 cell line., Materials and Methods: In this study, we assessed TET1 and Wnt1 expression in 5-azacytidine-treated HT29 cells, a demethylating agent commonly used in cancer therapy. Additionally, we enrolled 114 individuals who underwent radical surgical colon resection, including 47 with cancerous tissues and 67 with polyps. We utilized qRT-PCR to measure miR-200, miR-494, TET1, and Wnt1 mRNA levels in colorectal polyps, actual colorectal tumors, and normal adjacent tissues., Results: Our study revealed that TET1 expression was notably lower in both polyps and CRC tissue compared to adjacent normal tissue, with higher TET1 expression in tumors than polyps. We also observed significant differences in miR-200 and miR-494 expression in tumor samples compared to adjacent normal tissue. Our in vitro experiments revealed that 5-azacytidine administration increased TET1 and decreased Wnt1 expression in CRC cell lines. This suggests that DNA-demethylating drugs may have a therapeutic role in modifying TET1 and Wnt signaling in the development of CRC., Conclusions: Overall, our findings shed light on the intricate interactions between TET1, Wnt1, and specific miRNAs in colorectal cancer (CRC) and their potential implications for diagnosis and treatment., (© 2024. The Author(s).)

Background and Aim: Colorectal cancer (CRC) originates from pre-existing polyps in the colon. The development of different subtypes of CRC is influenced by various genetic and epigenetic characteristics. CpG island methylator phenotype (CIMP) is found in about 15-20% of sporadic CRCs and is associated with hypermethylation of certain gene promoters. This study aims to find prognostic genes and compare their expression and methylation status as potential biomarkers in patients with serrated sessile adenomas/polyps (SSAP) and CRC, in order to evaluate which, one is a better predictor of disease., Method: This study employed a multi-phase approach to investigate genes associated with CRC and SSAP. Initially, two gene expression datasets were analyzed using R and Limma package to identify differentially expressed genes (DEGs). Venn diagram analysis further refined the selection, revealing four genes from the Weissenberg panel with significant changes. These genes, underwent thorough in silico evaluations. Once confirmed, they proceeded to wet lab experimentation, focusing on expression and methylation status. This comprehensive methodology ensured a robust examination of the genes involved in CRC and SSAP., Result: This study identified cancer-specific genes, with 8,351 and 1,769 genes specifically down-regulated in SSAP and CRC tissues, respectively. The down-regulated genes were associated with cell adhesion, negative regulation of cell proliferation, and drug response. Four highly downregulated genes in the Weissenberg panel, including CACNA1G, IGF2, MLH1, and SOCS1. In vitro analysis showed that they are hypermethylated in both SSAP and CRC samples while their expressions decreased only in CRC samples., Conclusion: This suggests that the decrease in gene expression could help determine whether a polyp will become cancerous. Using both methylation status and gene expression status of genes in the Weissenberg panel in prognostic tests may lead to better prognoses for patients., (© 2024. The Author(s).)

CDKN1A gene is implicated in cell differentiation, development process, repair, apoptosis, senescence, migration, and tumorigenesis. Somatic alterations and polymorphisms may interfere in the function of CDKN1A, and this could affect the individual susceptibility to colorectal cancer (CRC). Here in, we evaluated the importance of single nucleotide polymorphic variants in codon 31 of CDKN1A (rs1801270: C > A) for the development of colorectal cancer in an Iranian population. A total of 150 CRC patients and 150 healthy controls were enrolled in this study. Genomic DNA was extracted from peripheral blood specimens. Genotypes were determined using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) assay. In CRC patients, the genotype frequencies detected were 90%, 8.0% and 2.0%2 for CC, AC and AA genotypes while the genotype frequencies in control group were 78%, 20.7% and 1.35% 1.35% for CC, AC and AA genotype, respectively. There were statistically significant differences in the distribution of CDKN1A rs1801270 genotypes and allele frequencies between colorectal cancer patients and healthy controls ( p value  = 0.021). Also, results indicated a significant negative association between AC genotype and risk of colorectal cancer occurrence. (Odds ratio (OR)=0.357; 95% confidence interval (CI)=0.168-0.760, p  = 0.007). Our data suggest that the AC genotype may have a protective role in the development of CRC in an Iranian population.

Many communities and territories in developing countries experience significant gaps in access to and use of information and communication technology (ICT), which is viewed as a major impediment to socioeconomic and health-related vulnerabilities. Geographic considerations, on the other hand, as well as variations in motivation for ICT usage and technology adoption within and across nations, as well as between cultures, have exacerbated the digital divide. This paper investigates disparities in access to and utilization of ICT in 31 Iranian provinces from 2011 to 2020. The research discovers evidence that family income and the number of R&D centers affected the formation of the digital divide, albeit the degree of the split has fluctuated through time and space. This study discovered that digital inequality is associated with social exclusion throughout Iranian regions, and it went on to try to better understand the underlying issues and potential solutions. In this regard, some policy avenues are suggested for government action, particularly for marginalized socioeconomic groups, such as the provision of infrastructure, training and skill augmentation, and the easing of digital services supplied by the government or private sector., (© The Author(s), under exclusive licence to Springer Nature B.V. 2022, Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.)

Aim: Here, we evaluated the VEGF gene -2578C/A polymorphism as a potential susceptibility factor in colorectal cancer (CRC) occurrence amongst Iranian CRC patients., Background: Vascular endothelial growth factor (VEGF) is a key regulatory factor in angiogenesis which plays essential roles in the development of malignancy in colorectal cancer (CRC), as the third most prevalent cancer worldwide., Methods: VEGF -2578C/A polymorphism was evaluated in 200 CRC patients and 200 healthy control subjects via restriction fragment length polymorphism analysis., Results: The frequencies of CC, AC and AA genotypes among CRC patients were 22.5%, 51% and 26.5%, respectively, with their respective genotype frequencies at 16%, 54% and 30% in control cohorts (P=0.247). The A allele frequency among the case group was 52% and for control group, it was 57%. C allele frequency in case and control groups was 48% and 43%, respectively (p=0.156). No significant association was observed (p=0.990) between this polymorphism and CRC stage., Conclusion: Our findings provide limited support for the hypothesis that the -2578C/A VEGF are associated with increased risk of colorectal cancer in Iranian colorectal cancer patients and suggest instead that meta data studies, which have previously relied upon populations definitions such as 'Asian', should more specifically take into account country of origin when associating prognostic value to a given genotype., (©2020 RIGLD, Research Institute for Gastroenterology and Liver Diseases.)

Objective: The purpose of this study was to evaluate the potential association between single nucleotide polymorphisms (SNPs) in microRNA (miRNA) binding sites in the NOD2 and IL12B gene 3.-untranslated regions and colorectal cancer (CRC) susceptibility in an Iranian population., Methods: We genotyped NOD2 rs3135500 [3. untranslated region (UTR) A/G] and IL12B rs1368439 (3.UTR G /T) in a hospital-based study of 92 colorectal cancer cases and 105 healthy controls. All samples were genotyped by TaqMan assay via an ABI 7500 Real Time PCR System (Applied Biosystems) with DNA from FFPE tissue and peripheral blood., Results: our results showed similar distribution of genotype and allelic frequencies of the NOD2 and IL12B polymorphisms between patients and controls. When the more common rs3135500 AA genotype was used as the reference, the rs3135500 AG and rs3135500 GG genotypes were not significantly associated with the risk of CRC (OR = 1.294, 95% CI: 0.524 -3.197; and OR = 2.230, 95% CI: 0.87 - 5.715, respectively), and The IL12B rs1368439 TG and IL12B rs1368439 GG genotypes were not significantly associated with the risk of CRC compared with the IL12B rs1368439 TT genotype (OR = 1.547 95% CI: 0.187- 12.771; and OR = 1.753, 95% CI: 0.217-14.157, respectively)., Conclusion: NOD2 rs3135500 and IL12B rs1368439 SNPs were not genetic risk factors for colorectal cancer in the studied Iranian population.

Colorectal cancer (CRC) is an important disorder that results from genetic and epigenetic alterations in one colonic epithelial cell. Epidermal growth factor (EGF) is critical in the development of tumors in epithelial tissues. Variations in the DNA sequence of the EGF gene may be particularly significant with regard to susceptibility to CRC. The present study aimed to investigate the effect of the EGF gene single nucleotide polymorphism (SNP), rs2298979, on CRC. In this prospective study, 220 samples were collected from patients with CRC and compared with 220 matched healthy controls. Genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, and the result was validated by direct sequencing. A significant correlation was observed between the rs2298979 variant in the EGF gene and CRC. The frequency of the A/G genotype in the control group was higher than in the patients with sporadic CRC [odds ratio (OR), 0.488; 95% confidence interval (CI), 0.307-0.774; P=0.002]. In this study there were no individuals with a G/G genotype. Although the frequency of the G and A alleles was similar in the healthy control and CRC patient groups, individuals with the A/G genotype were less susceptible to CRC compared with those with the A/A genotype.

MicroRNAs (miRNAs) are agents of post-transcriptional gene expression, and they can affect many functions of an individual cell or tissue from extracellular matrix production to inflammatory processes and tumor development. We aimed to determine the possible role of miRNA-binding site polymorphisms located in five cancer-related genes: IL-16, CDKN2A (p16), RAF1, PTGER4, and ITGB4 in colorectal cancer (CRC) risk modification in an Iranian population. This study was performed on 643 individuals (249 CRC cases and 394 healthy controls). We selected five cancer-related genes (IL-16, CDKN2A (p16), RAF1, PTGER4, and ITGB4) and investigated the genotypes of the 3' untranslated region miRNA-binding site polymorphisms in these genes in our study population. The restriction fragment length polymorphism results were confirmed by a direct sequencing method. We found a statistically significant difference between the rs1131445 polymorphism of the IL-16 gene and CRC. The frequencies of the genotypes TT, CT, and CC in controls were 51%, 40.4%, and 8.6%, respectively, and in cases were 41.4%, 44.1%, and 14.5%, respectively, which shows a significant association between the CC genotype of the rs1131445 polymorphism and CRC (P = 0.004). The frequency of the C allele in the CRC group was higher than in the controls, and the C allele of the rs1131445 polymorphism was found to be in association with CRC (P = 0.009). These associations remained significant after Bonferroni's correction for multiple testing. We found that the AA genotype of the rs743554 polymorphism in the ITGB4 gene and the T allele of the rs1051208 polymorphism of the RAF1 gene were associated with the risk of CRC in females; however, after Bonferroni's correction we found that they were non-significant. Finally, we can conclude that a significant relationship exists between the miRNA-binding site polymorphism of the IL-16 gene and CRC risk in the Iranian population., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Hepatitis B virus (HBV) isolates from Iranian patients around the country were characterized. Eighty-one complete genomes from HBV isolates were sequenced and analyzed. The studied population was grouped into three categories including inactive carriers, patients with chronic hepatitis, and patients with liver cirrhosis. Molecular and phylogenetic analyses revealed that Iranian patients were infected with HBV genotype D and subgenotype D1. The most common subtype was ayw2, followed by ayw3 and ayw4. Several deletions and insertions that had no correlation with disease outcome were observed in the HBV genomes. The most frequent mutation in the major hydrophilic region (MHR) of HBV surface antigen (HBsAg) was sP120S. Almost half of the patients studied carried precore (PC) mutant variants and one-third of the studied population was infected with variants carrying basal core promoter (BCP) mutations. PC and BCP mutations were observed in older patients, especially in those with chronic liver disease. Sixty-seven patients (82.7%) were HBeAg negative, and the prevalence of precore mutant isolates (G1896A) was higher in this group than in HBeAg-positive patients. Lamivudine drug resistance mutations were detected after 1 year of treatment in about 30% of lamivudine-treated patients. In conclusion, these results demonstrate that HBV subgenotype D1 is the only subgenotype circulating in Iran, and there is no evidence of any exotic genotype in the region. The HBV PC (G1896A) mutation may play an important role in the clinical outcome of the disease by increasing the risk of progressive liver disease among Iranian patients infected with HBV., (Copyright © 2012 Wiley Periodicals, Inc.)

Background: Wilson disease (WD) is an autosomal recessive disorder. The WD gene, ATP7B, encodes a copper-transporting ATPase involved in the transport of copper into the plasma protein ceruloplasmin and in excretion of copper from the liver. ATP7B mutations cause copper to accumulate in the liver and brain., Objectives: We examined the ATP7B mutation spectrum in Wilson disease patients in Iran., Patients and Methods: Genomic DNA was extracted from patients with Wilson disease. The entire coding region of the ATP7B gene was amplified using PCR and analyzed using direct sequencing., Results: We identified five novel mutations in 5 Iranian patients with Wilson disease. The first was a transversion, c.2363C > T, which led to an amino acid change from threonine to isoleucine. The second mutation was a deletion, c.2532delA (Val845Ser), which occurred in exon 10. The third mutation was a transition mutation, c.2311C > G (Leu770Leu), which occurred in the TM4 domain of the ATP7B protein. The fourth mutation was a transversion, (c.3061G > A) (Lys1020Lys), in exon 14. Lastly, we identified a transversion, c.3206C > A (His1069Asn) in exon 14 which led to a change in function of the ATP loop domain of the ATP7B protein. The H1069Q mutation was identified as the most common mutation in our study population., Conclusions: Based on our findings, the H1069Q may be a biomarker that can be used in a rapid detection assay for diagnosing WD patients.

Background: Colorectal cancers (CRCs) tumors are diagnosed by microsatellite instability (MSI) due to accumulation of insertion/deletion mutations in tandem repeats of short DNA motifs (1-6 bp) called microsatellites. Microsatellite instability (MSI) is not only a hallmark marker for screening of hereditary nonpolyposis colorectal cancer (HNPCC), but also a prognostic and predictive marker for sporadic colorectal cancer. Our objective was to determine and study of five mononucleotide microsatellite markers status among Iranian patients with HNPCC and sporadic colorectal cancer., Materials and Methods: In the current investigation 80 sporadic CRC and 80 HNPCC patients were evaluated for MSI. The pentaplex panel including 5 quasimonomorphic mononucleotide repeats (NR-21, BAT-26, BAT-25, NR-27 and NR-24) was used., Results: Our findings showed that the NR-21 was the most frequent instable marker among the other markers. 53% and 25.6% specimens had instability in sporadic CRC and HNPCC, respectively. Furthermore, the frequencies of instability BAT-25 was determined in 20% sporadic CRC and 23% HNPCC samples. Interestingly our results demonstrated that the frequency of instability NR-24 was similar 20% sporadic CRC and 20.5% HNPCC. Moreover, percentage of NR-27 in HNPCC was 19.2 and 0% in sporadic CRC. Finally, BAT-26 was instable in 21.8% HNPCC patients while we could find 6.6% instability for BAT-26 in sporadic cases., Conclusion: It seems that among 5 mononucleotides markers NR-21 was the most useful marker for diagnosis HNPCC and sporadic cancer. Following NR-21, BAT-25 and NR-24 are the most reliable markers. Therefore using a triplex panel including 3 aforementioned MSI markers should be more promising markers for identifying MSI status in both patients with HNPCC and/or sporadic colorectal cancer.

Background and Aim: One candidate gene for colorectal cancer (CRC) susceptibility is exonuclease 1 (EXO1). It is a member of RAD2 nuclease family, which plays a major role in mismatch repair, DNA replication, and recombination. Single-nucleotide polymorphisms are shown to be related with cancer incidence. The aim of the present study was to examine the association between the L757P polymorphism at exon 13 of the EXO1 gene and the risk of CRC in Iranian patients., Methods: In this case-control study, 90 cases and 98 healthy control samples were analyzed genetically. The EXO1 polymorphism, P757L, was analyzed by polymerase chain reaction-restriction fragment length polymorphism. The obtained polymorphisms were examined for the relationship with CRC risk and also clinicopathological characteristics., Results: Our findings showed that patients with the Leu/Leu genotype have a reduced risk of CRC (adjusted odds ratio [OR] = 0.192, 95% confidence interval [CI]: 0.040-0.921) when the Pro/Leu and Pro/Pro genotypes were blended and they were considered as the reference. The Leu/Leu genotype also showed a reduced risk (adjusted OR = 0.168, 95% CI: 0.034-0.816) when the Pro/Pro genotype was a reference; nevertheless, the Pro/Leu genotype did not reveal a significant association with CRC at the same status (adjusted OR = 0.686, 95% CI: 0.367-1.284)., Conclusions: Our results provide evidence diagnosing that the Leu/Leu genotype of EXO1 showed an inverse association with CRC. In addition, despite other investigations, we could define a significant association between the Leu allele and CRC (p = 0.001).

Background: Failure in the DNA mismatch repair system is commonly accompanied by microsatellite instability and leads to colorectal cancer. The aim of this study was to find the most frequent of five mononucleotide markers in order to devise the simplest diagnostic strategy for identification of patients with hereditary nonpolyposis colorectal cancer (HNPCC) who were defined by defects in mismatch repair system., Materials and Methods: 78 patients with colorectal cancer were recruited for this investigation. Five mononucleotide markers, NR-27, NR-21, NR-24, BAT-25 and BAT-26, were used as a pentaplex panel to determine MSI status., Results: Two out of five mononucleotide markers, NR-21 (25.6%) and BAT-25 (23.1%) showed more instability than the others., Conclusion: In defining individuals with colorectal cancer, BAT25 and NR-21 may provide diagnostic assistance.

Background: Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common cause of early onset hereditary colorectal cancer. In the majority of HNPCC families, microsatellite instability (MSI) and germline mutation in one of the DNA mismatch repair (MMR) genes are found., Materials and Methods: The entire coding sequence of MMR genes (MLH1, MLH2, MLH6, and PMS2) was analyzed using direct sequencing. Also, tumor tests were done as MSI and immunohistochemistry testing., Results: We were able to find three novel MLH1 and one novel PMS2 germline mutations in three Iranian HNPCC patients. The first was a transversion mutation c.346A>C (T116P) and happened in the highly conserved HATPase-c region of MLH1 protein. The second was a transversion mutation c.736A>T (I246L), which caused an amino acid change of isoleucine to leucine. The third mutation (c.2145,6 delTG) was frameshift and resulted in an immature stop codon in five codons downstream. All of these three mutations were detected in the MLH1 gene. The other mutation was a transition mutation, c.676G>A (G207E), which has been found in exon six of the PMS2 gene and caused an amino acid change of glycine to glutamic acid. MSI assay revealed high instability in microsatellite for two patients and microsatellite stable for one patient., Conclusion: In all patients, an abnormal expression of the MMR proteins in HNPCC was related to the above novel mutations.

To identify hepatitis delta virus (HDV) genetic variability and its circulating genotypes amongst infected Iranian patients, 25 patients with positive anti-HDV status from different parts of Iran were enrolled in this cross-sectional study. A portion of the HDV delta antigen was amplified, sequenced, and subjected to molecular and phylogenetic analysis. Clinical features and virological markers were evaluated. HDV RNA could be detected in 88% of anti-HDV positive cases (22 patients) with chronic hepatitis B virus (HBV) infection and liver cirrhosis. Phylogenetic analysis revealed that all Iranian patients were infected by genotype I (clade 1) of HDV, supported by a high bootstrap value (100%, 1,000 replicates). All HDV-positive patients were coinfected with genotype D1 of HBV. No significant association was determined between demographic, clinical, and virological variables in the population studied. In conclusion, the present molecular epidemiology survey reveals that clade 1 of HDV is predominant among coinfected HBV patients in Iran.