MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder with more than 60 disease-associated mutations in the responsible gene, MEFV. In the present study, we determined 15 MEFV mutations in Iranian Azeri Turkish FMF patients. Five hundred and twenty-four unrelated patients were tested for 15 known mutations in the MEFV gene using amplification refractory mutation system-polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism methods. Thirty-five different genotypes were characterized among the studied patients. Of the alleles investigated, the most common mutation was p.M694V (42.4%), followed by p.V726A (17%), p.E148Q (16.2%), and p.M680I (c.2040G>C) (15.2%). The p.R761H mutation (4.7%) was found to be the most frequent among the rare mutations. The mutations p.M680I (c.2040G>A), p.I692del, p.M694del and p.K695R were not found in this cohort. The remaining mutations account for 7.7% of the identifiable mutations. Five different types of complex alleles were also identified. The results show the diversity and the frequency of the mutations in the Iranian Azeri Turkish FMF patients. The p.R761H mutation is rather prevalent in Azeri Turks; therefore, it should be included in the routine molecular diagnosis of FMF patients from this ethnic group.

Detection of Helicobacter pylori antigen in stool samples for diagnosis of infection in children.

The study evaluated a non-invasive antigen test of stool samples for the diagnosis of Helicobacter pylori infection in children compared with histopathology of gastric biopsies (gold standard). The study included 96 children aged 1-15 years old with dyspeptic symptoms referred for endoscopy at Tabriz Children's Hospital, Tabriz, Islamic Republic of Iran from May 2003 to March 2004. Of 62 children who were positive by histology, 34 were H. pylori stool antigen positive and of 34 patients with negative histology, 27 had negative stool test. The sensitivity and specificity of the test were low (54.8% and 79.4% respectively) compared with the gold standard and the positive and negative predictive values were 82.9% and 49.9%. However, the test may be useful for mass screening for H. pylori.

Comparison of umbilical cord interlukin-8 in low birth weight infants with premature rupture of membranes and intact membranes.

Some studies showed increased levels ofproinflammatory cytokines like IL-6, IL-8 and TNF-alpha in the blood samples of pregnant women with PROM (Premature rupture of membranes) and their neonates. The aim of this study was to find a relationship between increased level of IL-8 and PROM, a cost benefit method for early diagnosis and reduction of hospitalization period of neonatal sepsis. This case control study was conducted in Obstetrics and Gynecology Department of Al-Zahra Hospital at Tabriz University of Medical Sciences, Iran from 10th April 2001 to 20th June 2003. We studied 50 LBW (Low birth weight) neonates born from mothers with PROM as the case group and fifty LBW neonates born from mothers without PROM as our control group Neonates born from pregnant women with PROM underwent sepsis workup and blood samples from their umbilical cord were sent for blood culture and IL-8 level measurement. Mean levels of IL-8 in study and control groups were 128.12 and 39.2 pg mL(-1), respectively. We had no positive blood culture and no bacteria could be isolated. Significantly elevated values (p<0.0003) were showed in cases with PROM compared to cases without PROM (medians 67.5 pg mL(-1) vs. 29.5 pg mL(-1), respectively). This study showed a strong relationship between IL-8 elevation and PROM. Increased levels of IL-8 can be used as indicator for early diagnosis of neonatal sepsis.

Ultrasound findings in biliary atresia: the role of triangular cord sign.

In this prospective study, 49 infants with prolonged jaundice, were studied between January 2005 to April 2007 in Tabriz Children's Hospital. All of these infants were evaluated with ultrasonography and isotopscan and finally biopsy was done in all of them under guide of sonography. In their sonographic evaluation, absence or presence of gall bladder, its size and also its evacuation after feeding was checked and beside this triangular cord sign was controlled. The PPV and specificity of triangular cord sign in diagnosis of extrahepatic biliary atresia (EHBA) was 100% but its NPV was only 78.5%. The overall accuracy, PPV, NPV, specificity and sensitivity ofultrasonographic findings in diagnosis of EHBA was about 94, 92, 94, 97 and 86%. Ultrasonography is a reliable screening method in early diagnosis of EHBA and triangular cord sign increases its accuracy especially its specificity.

Clinical characteristics and complications in oral caustic ingestion in children.

The aim of this study is to evaluate the prevalence of gastrointestinal symptoms in caustic ingestion, the severity of lesions and the role of early conducted endoscopy in prediction of outcome. In a cross-sectional study all children hospitalized for caustic ingestion during two years, aged 12 years and younger were evaluated for clinical history, endoscopic findings, method of treatment and observed complications. Out of 51 children, 8 consumed acidic and 43 alkaline materials. The mean age of the children was 35.9 +/- 18 months. Thirty four (66.7%) patients were male and 17 (33.3%) were female. In endoscopic survey, 38% had grade 1 and 62% had a burning intensity of grade 2 or higher. During the follow-up, esophageal structure developed in 5 cases and Gastric Outlet Obstruction (GOO) in 1 case. Two of 5 patients with stricture were treated by endoscopic dilatation and 3 of them underwent colon transposition surgery. Gastrectomy was done for the patient with GOO. Esophageal structure as a complication had a more incidence in acid ingestion. Gastric Otlet Obstruction (GOO) occurred in a case of acid ingestion. One of the patients died. Positive statistical relation between early endoscopic findings and complications found in control endoscopy suggest that early endoscopy probably is safe and provides important prognostic information. The role of prevention as a comprehensive strategy promoted by medical councils and the mass media is imperative.

Detection of Helicobacter pylori antigen in stool samples for diagnosis of infection in children

The study evaluated a non-invasive antigen test of stool samples for the diagnosis of Helicobacter pylori infection in children compared with histopathology of gastric biopsies [gold standard]. The study included 96 children aged 1-5 years old with dyspeptic symptoms referred for endoscopy at Tabriz Children's Hospital, Tabriz, Islamic Republic of Iran from May 2003 to March 2004. Of 62 children who were positive by histology, 34 were H. pylori stool antigen positive and of 34 patients with negative histology, 27 had negative stool test. The sensitivity and specificity of the test were low [54.8% and 79.4% respectively] compared with the gold standard and the positive and negative predictive values were 82.9% and 49.9%. However, the test may be useful for mass screening for H. pylori