Haplotype analysis of DXS548 and FRAXAC1 microsatellite loci in Iranian patients with Fragile X Syndrome

Objective Fragile X syndrome (FXS) is the most common cause of inherited mental retardation caused by expansion of a (CGG) repeat region up to 1000 repeat in 5' region of the FMR1 gene located in FRAXA locus Xq27.3. To better understand the mechanism involved in expansion of CGG region, the molecular characteristic of the flanking microsatellite markers in the region must be clarify in different populations. This study has aimed to examine the potential association between specific haplotype and the expanded AC-repeat region in cases and controls chromosomes.Materials & methods Forty unrelated FXS males and 62 unrelated normal males originating from various regions of Iran were haplotyped by analyzing two CA-repeat markers, FRAXAC1 and DXS548.Results Significant linkage disequilibrium was obtained between DXS548 and FRAXAC1 specific marker alleles and CGG repeat expansion among 40 fragile X cases compared to 62 normal controls. The frequencies of DXS548 and FRAXAC1 longer alleles in patients are significantly higher than that in control group. Two FRAXAC1 long alleles were only observed in cases, possibly due to concatenated mutations. The increase of heterozygosities in fragile X cases (DXS548 78.6%, FRAXAC1 64.6%) in comparison to the controls (DXS548 63.0%, FRAXAC1 47.0%) showed a multimodal distribution of fragile X associated alleles.ConclusionHaplotype analyses with DXS548 and FRAXAC1 markers represented that haplotype distribution in the normal controls and FXS patients were significantly different, representing a weak founder effect. Keywords: FXS; DXS548; FRAXAC1; haplotype

Febrile Seizure: Demographic Features and Causative Factors

How to cite this article: Esmaili Gourabi H, Bidabadi E, Cheraghalipour  F, Aarabi  Y, Salamat F. Febrile Seizure: Demographic Features and Causative Factors. Iran J Child Neurol Autumn 2012; 6(4):33-37.Abstract Objective Because of geographical and periodical variation, we prompted to determine the demographic features and causative factors for febrile seizure in Rasht. Materials & Methods In this cross-sectional study, all 6–month- to 6-year-old children with the diagnosis of febrile seizure admitted to 17 Shahrivar hospital in Rasht, from August, 2009 to August, 2010 were studied. Age, sex, family history of the disease, seizure types, body temperature upon admission and infectious causes of the fever were recorded. All statistical analysis was performed with SPSS software, version 16. Results Of the 214 children (mean age, 25.24±15.40 months), 124 were boys and 109 had a positive family history. Complex seizures were seen in 39 cases. In patients with a complex febrile seizure, 59% had the repetitive type, 20.5% had the focal type and 20.5% had more than 15 minutes duration of seizures. Most of the repetitive seizures (78.3%) occurred in patients under 2 years old; the difference between under and over 2-year-old patients was statistically significant (P=0.02). Study results did not show significant differences between the two genders for simple or complex seizures. The mean body temperature upon admission was 38.2±1.32◦C (38.31±0.82 degrees in boys and 38.04±1.78 in girls). Upper respiratory infections were seen in most patients (74.29%). All cases of lower respiratory infections were boys. There was a statistically significant difference between boys and girls in causes of fever. Conclusion Most of the children had a positive family history and the most common causative factor was upper respiratory infection.  References: Huang MC, Huang CC, Thomas K. 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Seizure. 2008 Jun;17(4):320-6.Ashrafzade F, Hashemzadeh A, Malek A. Acute otitis Media in Children with Febrile Convulsion. Iran J Otorhinolaryngol. 2002;16(35):33-9.Millichap JJ, Gordon Millichap J. Methods of investigation and management of infections causing febrile seizures. Pediatr Neurol. 2008 Dec;39(6):381-6.Hosseini Nasab A, Dai pariz M, Alidousti K. Demographic characteristics and predisposing factors of febrile seizures in children admitted to Hospital No. 1 of Kerman University of Medical Sciences. J Med Counc Islam Repub Iran. 2006;24(2):107-12.Keller A, Saucier D, Sheerin A, Yager J. Febrile convulsions affect ultrasonic vocalizations in the rat pup. Epilepsy Behav. 2004 Oct;5(5):649-54.Ogihara M, Shirakawa S, Miyajima T, Takekuma K, Hoshika A. Diurnal variation in febrile convulsions. Pediatr Neurol. 2010 Jun;42(6):409-12.Fallah R, Akhavan S, Mir Sadat Nasseri F. Clinical and demographic characteristics of first febrile seizure in children. J Shaeed Sdoughi Uni Med Sci Yazd. 2009;16(5):61-5.Khodapanahande F, VahidHarandi N, Esmaeli F. Evaluation of seasonal variation and circadian rhythm of febrile seizures in children admitted to the  pediatric ward of Rasoul-e-Akram hospital. Razi J Med Sci. 2008;15(59):59-66.Hassanpour onje H, Ghofrani M, Taheri N. Risk factors of recurrent febrile seizures in children admitted to hospital with the children of Hazrat Ali Asghar. J Iran Uni Med Sci. 2006;16(65):46-54.Habib Z, Akram S, Ibrahim S, Hasan B. Febrile seizures: factors affecting risk of recurrence in Pakistani children presenting at the Aga Khan University Hospital. J Pak Med Assoc. 2003 Jan;53(11):11-7.Abaskhanian A, Vahid Shahi K, Parvinnejad N. The Association between Iron Deficiency and the First Episode of Febrile Seizure. J Babol Univ Med Sci. 2009;11(3):32-6.Mahyar A, Ayazi P, Fallahi M, Javadi A. Risk factors of the first febrile seizures in Iranian children. Int J Pediatr. 2010 2010:862897.Kolahi AA, Tahmooreszadeh S. First febrile convulsions: inquiry about the knowledge, attitudes and concerns of the patients’ mothers. Eur J Pediatr. 2009 Feb;168(2):167-71.Talebian A, Honarpishe A, Mohajeri S, et al. Risk factors associated with incidence of first febrile seizure in children. Faiz. 2003;7(2):55-8.Sanaee Dashty A, Akhlaghi AK, Pazoki R. Clinical risk factors of febrile seizure in children in a university hospital in Bushehr port. Iranian south medical journal (Teb-e-Jonoob). 2007;9(2):168-74.Golestan M, Fallah R, Akhavan S. Evaluation of CSF in 100 children admitted with febrile seizures. J Shaeed Sadoughi Uni Med Sci Yazd. 2009;16(5):3-7.

Marked increase in breast cancer incidence in young women : A 10-year study from Northern Iran, 2004-2013

Introduction: Breast cancer is the most frequent cancer among women worldwide. Breast cancer incidence in young women is a health issue of concern, especially in middle-income countries such as Iran. The aim of this study is to report the breast cancer incidence variations in Golestan province, Iran, over a 10-year period (2004-2013). Methods: We analyzed data from the Golestan Population-based Cancer Registry (GPCR), which is a high-quality cancer registry collecting data on primary cancers based on standard protocols throughout the Golestan province. Age-standardized incidence rates (ASRs) and age-specific incidence rates per 100,000 person-years were calculated. Time trends in ASRs and age-specific rates were evaluated using Joinpoint regressions. The average annual percentage change (AAPC) with correspondence 95% confidence intervals (95%CIs) were calculated. Results: A total of 2106 new breast cancer cases were diagnosed during the study period. Most cases occurred in women living in urban areas: 1449 cases (68%) versus 657 cases (31%) in rural areas. Statistically significant increasing trends were observed over the 10-year study period amongst women of all ages (AAPC = 4.4; 95%CI: 1.2-7.8) as well as amongst women in the age groups 20-29 years (AAPC = 10.0; 95%CI: 1.7-19.0) and 30-39 years (AAPC = 5.1; 95%CI: 1.4-9.0). Conclusion: The incidence of breast cancer increased between 2004 and 2013 in Golestan province amongst all age groups, and in particular amongst women aged 20-39 years. Breast cancer should be considered a high priority for health policy making in our community.Peer reviewe

Metabolism and removal of anthracene and lead by a B. subtilis-produced biosurfactant

Most of effluents discharged to the environment contain toxic contaminants such as aromatic compounds and heavy metals which are considered hazardous to the nature and living organisms. In this study, Bacillus subtilis resistant to anthracene and lead was isolated from Persian Gulf sediments. Biosurfactant production was demonstrated using three methods, drop collapse, blood agar and oil spreading. Evaluation of optical density by spectrophotometer showed the bacterial growth in presence of 30 mg/l of anthracene and 50 mg/l of lead. Considerable proportion of anthracene (69.95%) was reduced after 120 h and the maximum percentage of lead absorption (82%) was observed after 150 min. The results indicated that the isolated bacterium was capable of removing anthracene and lead. Keywords: Aromatic compounds, Bacteria, Heavy metal, Persian Gul

Quality of Publication Ethics in the Instructions to the Authors of Iranian Journals of Medical Sciences

Providing a perfect instruction to authors can prevent most potential publication ethics errors. This study was conducted to determine the quality of ethical considerations in the instructions to the authors of Iranian research scientific journals of medical sciences (accredited by the Commission for Accreditation and Improvement of Iranian Medical Journals) in October 2011. Checklist items (n=15) were extracted from the national manual of ethics in medical research publications, and the validity of the manual of ethics was assessed. All the accredited Iranian journals of medical sciences (n=198) were entered into the study. The instructions to the authors of 160 accredited Iranian journals were available online and were reviewed. The ANOVA and Kendall Correlation coefficient were performed to analyze the results. A total of 76 (47.5%) of the 160 journals were in English and 84 (52.5%) were in Farsi. The most frequently mentioned items related to publication ethics comprised “commitment not to send manuscripts to other journals and re-publish manuscripts” (85%, 83.8%), “aim and scope” of the journal (81.9%), “principles of medical ethics in the use of human samples” (74.4%), and “review process” (74.4%). On the other hand, the items of “principles of advertising” (1.2%), “authorship criteria” (15%), and “integrity in publication of clinical trial results” (30.6%) were the least frequently mentioned ones. Based on the study findings, the quality of publication ethics, as instructed to the authors, can improve the quality of the journals

Exploratory endodontic surgery

Re-treatment of complicated endodontically treated teeth requires special consideration, particularly if the patient is unable to furnish the proper past history, such as where, when, and how the tooth in question was treated. In such cases most often more than just opening the pulp chamber and root canal(s) is required for a correct diagnosis. Under such circumstances exploratory endodontic surgery may become necessary to help determine prognosis and plan treatment. Thus, the amount of damage can be estimated and the possibility of successful treatment can be better evaluated through surgical exposure and direct visual examination of the area. © 1981

Assessing joint space and condylar position in the people with normal function of temporomandibular joint with cone-beam computed tomography

Background: The optimal position of the condyle in glenoid fossa is a fundamental question in dentistry. There is no quantitative standard for the optimal position of mandibular condyle in the glenoid fossa in our population. The purpose of this study is to assess the position of the condyle by cone beam computed tomography (CBCT) images in patient with normal function of temporomandibular joint (TMJ). Materials and Methods: In this cross-sectional study, CBCT images of 40 class I skeletal patients (15 males and 25 females) without history of TMJ disorders were selected. Next, the anterior, superior and posterior joint spaces (Ajs, Sjs, Pjs) were measured on the two true central sagittal slices. Then medial (M) and lateral (L) joint spaces on true coronal view were measured in the right and left sides, separately. After that, P/A ratio, S/A ratio and M/L ratio were calculated. Finally, a paired t-test and independent samples t-test were employed for analysis. Results: The centric position of the condyle in glenoid fossa was more common (92.5%) than other positions. Significant differences in Ajs, Sjs, Pjs, Mjs and Ljs values between two sides were observed (P ≤ 0.05). Additionally, Sjs showed statistically significant differences between the sexes (P = 0.05). P/A ratio and S/A ratio had significant differences between two sides but not between those sexes. Conclusion: The assessment of joint spaces in right and left sides should be done independently. Overall, the measured joint spaces except Sjs are not different in two sexes. The data from this study could be a useful and comparable reference for the clinical assessment of condylar position in patients with normal functional joints

Perinatal outcomes of pregnancies with borderline versus normal amniotic fluid index

Background: Amniotic fluid is an indicator of placental function on the fetal development. The amniotic fluid index is the most commonly used method of measuring amniotic fluid. Objective: The purpose of this study was to compare the pregnancy outcomes of a borderline versus normal AFI. Materials and Methods: This cross-sectional study was carried out on a total of 235 pregnant women referred to Alzahra Medical Center between 2009-2011. Women with a singleton pregnancy in third trimester were enrolled into this study; of these subjects, 141 cases were in normal AFI group and 94 cases in borderline AFI group. Adequate information was obtained from the patients' medical record and the groups were compared on maternal and fetal complications. Data analysis was performed by using SPSS. Results: The mean maternal age in borderline AFI group was 25.96±5.92 years and in normal AFI group was 27.88±6.5 years (p=0.023). Maternal outcomes such as preterm delivery and labor induction in women with borderline AFI were considerably higher than those in normal group (p=0.01 and p=0.001). There were no significant differences between the two groups in terms of high blood pressure, preeclampsia, diabetes and neonatal respiratory distress. The borderline AFI group had higher rate of neonatal complications such as Apgar score of less than 7 (p=0.004), IUGR (0.0001), LBW (0.001), and crucial need to NICU (0.003). Conclusion: Findings indicated that there are statistical differences between adverse outcomes in borderline AFI group and normal group