Mutation analysis of exons 10 and 17a of CFTR gene in patients with cystic fibrosis in kermanshah province, Western Iran

Cystic fibrosis [CF] is the most common genetic disorder with autosomal recessive inheritance among Caucasian populations. So far, more than 1950 different mutations were identified in cystic fibrosis transmembrane conductance regulator [CFTR] gene. CFTR gene has 27 exons. The type and distribution of mutations vary widely among different countries and/or ethnic groups. Therefore, a comprehensive analysis was performed on exon10 and exon17a of CFTR gene in CF patients in the Kermanshah province, western Iran. We tested 27 patients admitted to the medical genetics laboratory of Kermanshah University of Medical Sciences. The patients were from different cities of Kermanshah province. All the patients had the clinical signals and two positive sweat tests. After filling agreement forms and questionnaire, the peripheral blood sampling and DNA extraction were done. DNA samples were extracted. PCR and sequencing special PCR were done. Finally analysis of the results with DNA sequencing analysis version 5.2 software was performed. CFTR mutations analysis identified 4 different mutations in our CF patients. The disease-causing mutations were p.F508del [delta F508] [14.81%], p.S466X [1.85%], and p.T1036I [1.85%]. M470V polymorphism with frequency of 74.1% was found in 23 patients [17 homozygous and 6 heterozygous]. Three disease-causing mutations in CF patients in the present study account for approximately 18.51% of mutations. The frequency of p.F508del, the most common mutation was 16-18.1% in Iranian population. The results of the present study can be applied for genetic counseling, population screening and prenatal diagnosis

Tuberculin reactivity in school age children; five-year follow-up in Iran

Tuberculosis [TB] is an important infectious disease worldwide. Tuberculin skin test [TST] is the standard test for diagnosis of tuberculosis infection; Bacillus Calmette-Guerin [BCG] vaccination at birth has effects on this test. The aim of this study was to determine the prevalence of positive TST cases among 7- to 11-year-old primary school children and also to follow test-positive individuals for a five-year period. TST was performed on 10.184 children aged 7-11 years sampled by cluster random method in Kermanshah, West Iran. Those who had a positive test result [i.e. an induration of >/=15 mm following 72 hours of injecting 0.1 ml of 5 tuberculin units of purified protein derivative from Mycobacterium tuberculosis] were followed for five years to determine the presence of active TB. Also tuberculin positive rates at cut-off points of 10 mm and >/=15 mm for boys and girls and at different ages were derived and compared using the chi-squared test. Of 10.184 studied subjects, 830 [8.15%] cases showed positive TST. This rate was 8.7% in boys and 7.8% in girls [P=0.1]. A significant linear trend was found between the tuberculin positive rates and age at all cut-off points [P<0.001]. No active TB was detected during 5-year follow-up. The rate of positive TST cases in primary school children in Kermanshah, Iran was 8.15% with no new cases of active tuberculosis detection within five-year follow-up

[Epidemiology of acute flaccid paralysis in Kermanshah province, 2004-2009]

The aim of this study was to determine epidemiologic features of acute flaccid paralysis [AFP] during 2004-2009 in Kermanshah province. This cross-sectional descriptive study was done based on data records from Kermanshah health care center. In total 89 patients, 0- 14 years old were enrolled study, which 36 of them were male and 53 were female. 50.6% of subjects were diagnosed as Guillain-barre, 6.7% transverse synovitis and 5.6% as arthritis. No any cases of poliomyelitis were diagnosed. The prevalence of reported of AFP during 2004-2009 in Kermanshah province was more than expected rate of 1 per 100000 according to WHO

[Characterization of Leishmania isolated from Kala- azar infected patients in Kermanshah using PCR]

Visceral leishmaniasis [VL] or Kala-azar is an important parasitic disease caused by protozoan parasites of the genus Leishmania including L. donovani and L. infantum. Some evidences show that VL is present in some areas of Kermanshah province and this study aimed to characterize the causative agent of VL in this region. Bone marrow sample was obtained from 9 VL patients from Pediatric Hospital in Kermanshah. DNA was extracted from the microscopic slides and was checked by specific PCR to find out the species of the parasite. To do that, a segment of mini circle kinetoplast DNA was amplified, using LINR4 and LIN17 primers. All samples produced a 720 bp band in PCR reaction. Products of PCR were evaluated by electrophoresis using 1.5% gel agarose. Anti Leishmania antibody was detected in all patients except one case by IFAT. Examination of bone marrow smears demonstrated numerous amastigotes of Leishmania [Leishman bodies] in the samples. The isolates were compared with reference strains and revealed that all isolates were L. infantum. Our findings showed that L. infantum is the most common VL in Kermanshah and one-step PCR reaction may be suitable method to detect species' characterization. Further study is necessary to explore other aspects of VL including seroprevalence and parasite reservoirs in this region

[Epidemiology of leprosy in Kermanshah province from 2003 to 2008]

Although leprosy is an endemic disease in Iran, it has been reduced rate over recent years. The present study has been conducted to investigate epidemiology of incident cases over last 6 years. A descriptive study designed to investigate all reported cases of leprosy in Kermanshah Province from 2003-2008. Data was collected from leprosy referral center in Kermanshah. Data was analyzed using descriptive methods and Stata software. The incidence of leprosy was calculated by dividing the total number of new cases in each year to total population of Kermanshah Province. Overall, 41 cases of leprosy have been diagnosed over the period of study. From total of 41, three cases referred from outside of Kermanshah province and excluded from analysis. The mean age of patients was 49.6 +/- 13.9. The highest and the lowest number of cases were diagnosed in 2004 [14 cases] and 2005 [3 cases] respectively. Most of lesions occurred in upper and lower limbs [10 cases] 32 cases diagnosed as lepromatous leprosy. Kermanshah city, Javanroud and Salas-Babajani had the highest number of patients. Overall, the incidence of this condition was less than 1/100,000 in each year. We concluded that leprosy has been eliminated in Kermanshah province and even adding the undiagnosed patients does not change this conclusion

[Third attacks of chicken pox in a leukemic child]

Chicken pox is caused by Varicella zoster. Infected persons usually acquire permanent immunity and a reinfection is unusual. We report on a leukemic girl aged 12 years and 4 months, who had two chicken pox infections during 2 months. Leukemia was diagnosed 20 months ago. In her past history she had a first chicken pox infection 2 years before leukemia was diagnosed. Recurrence of chicken pox is possible especially in immune comprised individuals. Our leukemic patrent had 3 attacks of chicken pox

Diagnostic value of serological tests [IgA, IgG, IgM] against A-60 antigen in tuberculosis

Tuberculosis [TB] is a common infectious disease worldwide especially in developing countries. Diagnosis of TB is difficult and often needs paraclinical studies. Measuring immunoglobulin's against A-60 antigen of TB microorganism has been reported as a useful technique. The aim of the present study was to evaluate the diagnostic value of serologic test [IgA, IgM, IgG] against A-60 antigen in tuberculosis. For this case-control study, 176 TB patients [124 patients with smear-positive pulmonary TB and 52 patients with extra pulmonary TB] and 283 healthy controls were enrolled. Then, all subjects were tested for IgM, IgA and IgG against A-60 antigen using ELISA technique. Sensitivities of IgM, IgG and IgA test were 15%, 25% and 40%, respectively while the following specificities were also reported 100%, 75% and 90%, respectively. Positive predictive values [PPV] were 100%, 57% and 72%, however, negative predictive values [NPV] were 65%, 72% and 70%, respectively. Combination of immunoglobilins results increased sensitivity, for which the most sensitivity was observed in combination of IgG and IgA results. Our results revealed the usefulness of serologic testing in TB diagnosis. Although its sensitivity is not high enough, combination of immunoglobulin results may improve the sensitivity