Neural tube defects in native fars ethnicity in northern iran.

BACKGROUND: Neural tube defects (NTD) are one of the leading causes of infant mortality worldwide. This study was designed to determine the prevalence of NTDs among native Fars ethnic groups during 1998-2005, and to identify maternal and demographic factors associated with NTDs. METHODS: We performed a descriptive cross-sectional hospital-based study in Dezyani Hospital, Gorgan, North of Iran, since January 1998 until December 2005. The design was based on a sample of 30,639 births of native Fars ethnic groups. Data were analyzed by using spss V13.5 software and were compared with the chi-square test. RESULTS: The prevalence of NTDs in Native Fars during the 8-year period was 25.4 per 10000 births (95% confidence interval: 20.1-31.8). The prevalence of NTDs was 20.6/10000 and 30.6/10000 in males and females respectively but this difference was not significant. The prevalence of spina bifida, anencephaly and encephalocele were 12.7, 11.4 and 1.3 per 10000 respectively. The rate of NTD was 48.9/10000 in newborns with mothers aged > 35 years. The highest rate of NTDs and spina bifida was in 2002. The highest and lowest rate of anencephaly was in 2005 and 2003 respectively. Twenty eight percent of the parents had consanguineous marriages. Degree relatedness 3, 4, 5 and 6 of consanguineous marriages were 12.8%, 9%, 3.8%, 2.5%, respectively. Also 47.5% of the parents resided in rural areas. CONCLUSION: This investigation showed that the rate of NTDs in Native Fars was higher in Iran. In addition, this rate is higher than the Canada and Ukraine and lower than Chinese people.

Sentinel hospital-based surveillance of rotavirus diarrhea in iran.

BACKGROUND: Rotavirus is the most common causes of severe, acute diarrhea during childhood and is an important cause of morbidity and mortality in developing countries. We established active hospital-based surveillance of childhood diarrhea to assess the scope of severe rotavirus disease in Iran. METHODS: From May 2006 through April 2007, prospective surveillance of rotavirus diarrhea among children aged <5 years was conducted in 5 sentinel hospitals in Iran. Stool samples were tested for rotavirus using a commercially available enzyme immunoassay, and rotavirus-positive samples were genotyped using reverse-transcriptase polymerase chain reaction. RESULTS: Of 2198 children admitted to the hospital for acute gastroenteritis, 1298 (59.1%) had stool samples test positive for rotavirus by enzyme immunoassay. Of the rotavirus episodes, 85% occurred during the first 2 years of life, with the peak prevalence of severe rotavirus disease occurring from September through January. Among the 110 rotavirus-positive samples that were genotyped, G4P[8] was the most commonly detected rotavirus genotype (30.9% of strains). Other commonly detected genotypes included P[8] with G nontypeable (21.8%), G4 with P nontypeable (13.6%), G1[P8] (10.9%), and G2[P4] (5.5%). CONCLUSIONS: Rotavirus is the most common cause of severe diarrhea in Iran, which indicates that safe and effective rotavirus vaccination in Iran is a public health priority.

A comprehensive study on the major mutations in glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in the coastal provinces of Caspian Sea in the north of Iran.

BACKGROUND: The aim of this study was the molecular analysis of G6PD patients for G6PD mutations in the coastal provinces of the Caspian Sea in north of Iran. METHODS: Studies on G6PD deficiency in the coastal provinces of the Caspian Sea in Iran were performed in 248 patients with a history of favism, in Mazandaran, Golestan and Gillan provinces, which contributed 74, 71 and 103 samples, respectively. Three different major polymorphic variants were determined by molecular analysis, using SSCP, sequencing and PCR-RFLP methods. Firstly, all Mazandaranian samples were searched for the Mediterranean mutation by PCR-RFLP method. The remaining samples of the Mazandaran province were analysed by SSCP followed by sequencing for other mutations. Then, our research was expanded in two other provinces, Golestan and Gillan, by the PCR-RFLP method. RESULTS: Three different major polymorphic variants were found: G6PD Mediterranean 75.4% (187 out of 248), G6PD Chatham 19.76% (49 out of 248), G6PD Cosenza 2.02% (5 out of 248) and 7 samples out of 248 remained unknown. Also, there was no significant difference in the incidence of various G6PD polymorphic variants with mean age, and various blood work values such as Hb, WBC and MCV between two major variants (p>0.20). CONCLUSIONS: These results which are the first molecular investigation in north of Iran indicate a higher prevalence of G6PD Chatham in this large Iranian population than anywhere else in the world. The distribution of these G6PD variants is more similar to that found in an Italian population (80-84% for Mediterranean, 20% for Chatham and 1.9% for Cosenza mutation). Although the origin of Iranian population is rather uncertain, the closer similarity of the mutation spectrum to Italian rather than Middle Eastern population may indicate that these populations have a common ancestral origin.

Tumor necrosis factor-alpha gene promoter polymorphism in Iranian patients with chronic hepatitis B.

BACKGROUND: Clearance of hepatitis B virus (HBV) infection requires a good host immune response. Cytokines like tumor necrosis factor-alpha (TNF- alpha) may play a role in such immune response. Genetic changes in TNF-a gene promoter region are known to influence TNF- alpha expression. We therefore studied the role of one such mutation in chronic HBV infection. METHODS: Presence of -308 G/A polymorphism in the promoter region of TNF- alpha gene was looked for in 100 patients with chronic HBV infection, 91 subjects with spontaneously recovered HBV infection and 89 healthy controls, using a PCR-RFLP method. RESULTS: Variant alleles (A/A or A/G) were found in 22 of 100 (22%) patients with chronic HBV infection, 21 of 91 (23%) subjects with spontaneous HBV clearance and 14 of 89 (15.7%) control subjects (p=ns for inter-group comparisons). CONCLUSION: TNF- alpha promoter polymorphism -308A is common in Iranian population, but has no association with development of chronic HBV infection.

Molecular identification of mutations in G6PD gene in patients with favism in Iran.

Glucose 6-phosphate dehydrogenase is a highly polymorphic enzyme encoded by a human X-linked gene (Xq2.8). This enzyme catalyses the first step of pentose phosphate pathway, that converts glucose 6-phosphate to 6-phosphogluconate with production of NADPH2. G6PD deficiency is the most common human metabolic inborn error affecting more than 400 million people world wide. The main clinical manifestations are acute hemolytic anemia and jaundice, triggered by infection or ingestion of Fava beans or oxidative drugs. A predominant variant of G6PD named Mediterranean is often associated with favism. This has been evident in several countries including Northern coastal provinces of Iran. Other current variants are Chatham and Cosenza. Molecular identification of the most prevalent mutations in G6PD gene was carried out in 71 males and females with G6PD deficiency. They were from Iranian Northern province of Golestan. DNA was extracted from blood samples and analyzed for known G6PD mutation by PCR and restriction fragment length polymorphisms (RFLP) technique. Adapting this method, revealed that Mediterranean mutation at nt 563(C-->T) is predominant in the area (69%) and 26.7% of patients have Chatham mutation at nt 1003(G-->A). Findings indicate a higher prevalence of these mutations, in Golestan compared to Mazandaran (66.2% Mediterranean and 19% Chatham mutation) and Gilan (86.4% Mediterranean and 9.71% Chatham mutations). Cosenza mutation at nt 1376(G-->C), by PCR-RFLP technique was not found among other 3 samples (4.3%). The similarity of these results with mutations in Italy indicates probable existence of a common ancestral origin in the observed populations.

Effects of nitric oxide on adenylyl cyclase stimulation in N18TG2 neuroblastoma cells.

The addition of nitric oxide (NO), in the form of either donor compounds or nitric oxide gas, inhibits hormone-stimulated cAMP accumulation in N18TG2 cells. Hormone receptors and Gs are not targets of NO because forskolin-stimulated cAMP accumulation is also inhibited. The inhibitory effect of NO is not altered by pretreatment of cells with pertussis toxin, indicating that Gi is not mediating the effect of NO. cAMP accumulation in these cells is not altered by cell incubation with Ca++ ionophore or calmidazolium, indicating that calmodulin is not the target for NO. Experiments also rule out changes in phosphodiesterase or cGMP as mediators of the effect of NO. Cell incubation with superoxide dismutase in the presence or absence of catalase indicate that nitric oxide is the reactive species. The inhibitory action of nitric oxide is readily reversed, allowing full recovery of hormone and forskolin stimulation within 20 min of incubation in the absence of nitric oxide. The sum of the data indicate that NO targets either the adenylyl cyclase itself, or a regulatory component distinct from G proteins or calmodulin, to inhibit activation of the enzyme.