Shiraz University of Medical SciencesIranian Journal of Medical Sciences0253-071644320190501Effectiveness of Paromomycin on Cutaneous Leishmaniasis in Iran: A Systematic Review and Meta-Analysis1851954497310.30476/ijms.2019.44973ENRahmatollahMoradzadehDepartment of Epidemiology, School of Health, Arak University of Medical Sciences, Arak, Iran0000-0003-4952-3454ParvanehGolmohammadiDepartment of Epidemiology, School of Health, Arak University of Medical Sciences, Arak, IranHamiAshrafRazavi Cancer Research Center, Research and Education Department, Razavi Hospital, Mashhad, IranHaidarNadrianDepartment of Health Education and Promotion. Faculty of Health Sciences, Tabriz University of Medical Sciences, Tabriz. IranMohammad RezaFakoorzibaDepartment of Medical Entomology and Vector Control, Research Centre for Health Sciences, School of Health, Shiraz University of Medical Sciences, Shiraz, Iran0000-0001-7274-6870Journal Article20170405Background: Some treatment reported for cutaneous leishmaniasis. The studies examined the impact of the paromomycin has different characteristics and results. The aim of the present study was to conduct a systematic review and meta-analysis of all randomized clinical trials evaluating the effectiveness of paromomycin in the treatment of cutaneous leishmaniasis in Iran.Methods: Literature search was conducted using MEDLINE, Web of Science, Scopus, Scientific Information Database, IranMedex, Magiran, Iranian Registry of Clinical Trials (from February 2000 to May 2016), and references cited in the text of selected studies. Search terms used were “paromomycin”, “cutaneous leishmaniasis”, “randomized”,” aminosidine”, “controlled trial”, and “clinical trial”. Random effects models were used to calculate the measure of association, with 95% confidence intervals, to analyze the efficacy of paromomycin in the treatment of cutaneous leishmaniasis.Results: Initial search yielded 76 citations. Of these original results, 9 met our specific selection criteria. Four of the randomized controlled trials compared the efficacy of paromomycin in the treatment of cutaneous leishmaniasis with that of a placebo; they were included in the meta-analysis. The success rate of treatment with paromomycin was higher than that with the placebo (pooled RR=4.50, 95% CI: 2.54 to 8.02; P=0.001 and I2=26.7%), whereas the difference with the non-placebo treatments was nonsignificant (pooled RR=0.79, 95% CI: 0.58 to 1.073; P=0.131 and I2=83.3%).Conclusion: No significant difference was observed between paromomycin and the other treatments in their effectiveness in the treatment of cutaneous leishmaniasis. Because no single drug is effective against all the forms of leishmaniasis, we suggest multidrug therapy.https://ijms.sums.ac.ir/article_44973_08d92bf9ee16d0a88bab06eae77f4ec0.pdfShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-071644320190501The Effect of Bronchial Asthma on Interatrial Electromechanical Delay Coupling Obtained Using Tissue Doppler Imaging1962034497410.30476/ijms.2019.44974ENYazdanGhandiDepartment of Pediatric Cardiology, Faculty of Medicine, Arak University of Medical Sciences, Arak, Iran0000-0002-5803-1286DanialHabibiDepartment of Biostatistics, Faculty of Medicine, Arak University of Medical Sciences, Arak, IranMohammadAbasiMedical Science, School of Medicine, Arak University of Medical Sciences, Arak, IranJournal Article20180513Background: Asthma is a predisposing factor for the development of atrial fibrillation. Asthma disturbs the electrophysiology in the right and left atrium. The aim of this study was to evaluate atrial electromechanical delay by coupling obtained from tissue Doppler imaging (TDI) in children. Methods: A cross-sectional study was conducted on 50 patients with Bronchial Asthma, compared with 50 healthy children. The intra-right atrial conduction time (IRCT), intra-left atrial conduction time (ILCT), and interatrial conduction time (IACT) were calculated. The function of systolic and diastolic right ventricular (RV) was assessed by TDI, conventional echocardiography, and pulse Doppler wave. The pulmonary function test was carried out for all the subjects by spirometry. We used an independent Student’s t test and Pearson’s correlation test for analyzing the data.Results: The findings revealed normal shape in both atrial between the two groups. The diastolic RV function was not significantly different between the subjects as measured by the pulse wave Doppler in the tricuspid flow. Patients in the experimental group had significantly higher intra and interatrial electromechanical delays (P=0.007) than the control group. This difference was statistically significant with regard to IRCT (P=0.0001) and IACT (P=0.005). IRCT/IACT and myocardia performance index (r=0.35, P=0.004; and r=0.52, P=0.008) correlated with isovolumetric relaxation time (r=0.46, P=0.003; and r=0.58, P=0.008).Conclusion: We found that IRCT and IACT prolonged in pediatricswith asthma. Also, it was found that there was a correlation between IRCT and IACT, on one hand, and RV myocardial performance index, on the other hand, but they were not related to TDI diastolic parameters. https://ijms.sums.ac.ir/article_44974_44c007b9b6831ea43ea7031f720dbe32.pdfShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-071644320190501Factors Affecting Insulin Compliance in Patients with Type 2 Diabetes in South Iran, 2017: We Are Faced with Insulin Phobia2042134497510.30476/ijms.2019.44975ENAlirezaMirahmadizadehNon-communicable Diseases Research Center, Department of Epidemiology, School of Health, Shiraz University of Medical Sciences, Shiraz, Iran0000-0002-2259-4984HamedDelamStudent Research Committee, Department of Epidemiology, School of Health, Shiraz University of Medical Sciences, Shiraz, Iran0000-0003-2054-4892MozhganSeifDepartment of Epidemiology., School of Health, Shiraz University of Medical Sciences, Shiraz, Iran0000-0003-2301-5603Sayed AliakbarBanihashemiKazeroun Branch, College of Medicine, Islamic Azad University, Kazeroun, Iran;HamidrezaTabatabaeeResearch Center for Health Sciences, Department of Epidemiology, School of Health, Shiraz University of Medical Sciences, Shiraz, IranJournal Article20170919Background: Many patients with type 2 diabetes are uncontrolled on maximum oral treatment. The early introduction of insulin can lower diabetes-related complications. This study aimed to evaluate type 2 diabetes patients’ demographic characteristics, clinical factors, and attitude toward insulin therapy initiation. Methods: In the present cross-sectional study, 457 patients were selected from 12 diabetes clinics in the southern Iranian city of Shiraz in 2017. Adult patients (>30 y) with type 2 diabetes indicated to use insulin for the first time (insulin-naive) were asked to complete a researcher-designed questionnaire. The data were analyzed using SPSS 19. The relationships between insulin and the tendency to use insulin, demographic characteristics, and clinical data were evaluated using the χ2 or t test and logistic regression. The significance level was considered at 0.05. Results: The mean age of the participants was 55.16±8.76 years and 67.4% were female. Despite physician recommendations, 60.2% of the patients were disinclined to use insulin. Those unwilling to initiate insulin therapy had more misconceptions. In the multivariate analysis, the chances of insulin noncompliance were increased by 4.63-fold among the patients without supplementary insurance (P<0.001), by 2.38-fold among those with a nondiabetic diet (P=0.002), and by 6.75-fold among the illiterate ones (P<0.001).Conclusion: Based on the results, the factors affecting insulin noncompliance in our insulin-naive patients with type 2 diabetes included insurance coverage, illiteracy, and nondiabetic regimens as well as misconceptions about and irrational fear of insulin injection. Overall, our results indicate the need for further education and financial support for patients and health staff.https://ijms.sums.ac.ir/article_44975_eb21d28931751e9fcae380ec2573a291.pdfShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-071644320190501Segmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome2142194497610.30476/ijms.2019.44976ENMohammad RezaMiriDepartment of Medical Biotechnology, School of Advanced Medical Sciences and Technology, Shiraz University of Medical Sciences, Shiraz, Iran0000-0001-6884-6983JamilehSaberzadehDepartment of Medical Biotechnology, School of Advanced Medical Sciences and Technology, Shiraz University of Medical Sciences, Shiraz, Iran0000-0003-0912-9313AbbasBehzad BehbahaniDiagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, IranMohammad BagherTabeiDepartment of Medical Genetics, School of Medical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran; and Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, IranMohsenAlipourComprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, IranMajidFardaeiDepartment of Medical Genetics, School of Medical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran; andComprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran0000-0002-8393-0371Journal Article20171028Background: Quantitative fluorescence-polymerase chain reaction (QF-PCR) is an inexpensive and accurate method for the prenatal diagnosis of aneuploidies that applies short tandem repeats (STRs) as a chromosome-specific marker. Despite its apparent advantages, QF-PCR is not applicable in all cases due to the presence of uninformative STRs. This study was carried out to investigate the efficiency of a method based on applying segmental duplications (SDs) in conjunction with STRs as an alternative to stand-alone STR-based QF-PCR for the diagnosis of Down syndrome. Methods: Fifty amniotic fluid samples from pregnant women carrying Down syndrome fetuses, 9 amniotic fluid samples with 1 or without any informative STR marker (inconclusive), and 100 normal samples were selected from Shiraz, Iran, between October 2015 and December 2016. Analysis was done using an in-house STR-SD-based multiplex QF-PCR and the results were compared. Statistical analysis was performed using MedCalc, version 14.Results: All the normal, Down syndrome, and inconclusive samples were accurately identified by the STR-SD-based multiplex QF-PCR, yielding 100% sensitivity and 100% specificity. Karyotype analysis confirmed all the cases with normal or trisomic results.Conclusion: The STR-SD-based multiplex QF-PCR correctly identified all the normal and trisomy 21 samples regardless of the absence of informative STR markers. The STR-SD-based multiplex QF-PCR is a feasible and particularly useful assay in populations with a high prevalence of homozygote STR markers.https://ijms.sums.ac.ir/article_44976_2ac4b23ce124469fa3c464ebd4a20dc0.pdfShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-071644320190501Anticonvulsant Activity of Viola tricolor against Seizures Induced by Pentylenetetrazol and Maximal Electroshock in Mice2202264497710.30476/ijms.2019.44977ENVafaBaradaran Rahimi0000-0003-2320-5095Vahid RezaAskariMahmoudHosseiniBahareh SadatYousefsaniHamid RezaSadeghnia0000-0002-3228-6897Journal Article20170924Background: Recently, there has been much more interest in the use of medicinal plants in search of novel therapies for human neurodegenerative diseases such as epilepsy. In the present study, we investigated the anticonvulsant effects of Viola tricolor (V. tricolor) on seizure models induced by pentylenetetrazol (PTZ) and maximal electroshock stimulation (MES). Methods: Totally, 260 mice were divided into 26 groups (n=10). Thirty minutes after treatment with the hydroalcoholic extract of V. tricolor (VHE 100, 200, and 400 mg/kg) and its ethyl acetate (EAF 50, 100, and 200 mg/kg) and n-butanol (NBF 50, 100, and 200 mg/kg) fractions as well as diazepam (3 mg/kg), seizure was induced by PTZ (100 mg/kg) or by MES (50 Hz, 1 s and 50 mA). Analysis was performed via ANOVA with the Tukey–Kramer post-hoc test using GraphPad Prism 6.01 (La Jolla, CA). Results: The VHE (400 mg/kg) significantly enhanced latency to the first generalized tonic-clonic seizures (GTCs) induced by PTZ in comparison to the control group (P<0.001). All 3 concentrations of the EAF (50, 100, and 200 mg/kg) significantly prolonged the latency of PTZ-induced seizures compared to the control group. Additionally, all the concentrations of the NBF (50, 100, and 200 mg/kg) made a significant increment in GTCs latency induced by PTZ in comparison to the control group. On the other hand, all the concentrations of the VHE, EAF, and NBF significantly reduced the incidence of hind-limb tonic extension (HLTE) induced by MES, when compared to the control group. Conclusion: The present study showed that V. tricolor and its ethyl acetate and n-butanol fractions possessed anticonvulsant effects as confirmed by the prolongation of latency to the first GTCs induced by PTZ and decrement in the incidence of HLTE induced by MES.https://ijms.sums.ac.ir/article_44977_448da97db39f7d8755190534dc6438af.pdfShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-071644320190501The Impact of Echium Amoenum Distillate on Naturally Boosting Fertility: Potential Ameliorative Role in Male Mice Reproductive Parameters2272354497810.30476/ijms.2019.44978ENShimaFakherDepartment of Biochemistry, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran0000-0002-5764-3651AtefehSeghatoleslamResearch Center for Traditional Medicine and History of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran0000-0002-8277-6608AliNoorafshanHistomorphometry and Stereology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran0000-0003-1082-011XSaeidKarbalay-DoustHistomorphometry and Stereology Research Center, Shiraz University of Medical Sciences, Shiraz, IranMaryamRahmanifardDepartment of Biochemistry, School of Medicine, Shiraz University of Medical Sciences, Shiraz, IranMojtabaRashidiDepartment of Clinical Biochemistry, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, IranJournal Article20170730Background: Iranian borage, Echium amoenum, is believed to improve reproduction according to folk medicine. Although E. amoenum distillate known as “Aragh Gav-zaban” is widely consumed as a safe and natural remedy, its possible effects on fertility have not yet been scientifically examined. The present study aimed to investigate the effects of borage distillate (BD) on reproductive parameters of male mice.Methods: In this experimental study, 30 adult male Mus musculus mice (30-35 g) were equally divided into three groups. The control group received distilled water (DW) for five weeks and the other two groups, BD1/2 and BD1/4, received borage distillate of 1/2 dilution (150±2.5 ml/kg/day) and 1/4 dilution (75±1.25 ml/kg/day), respectively, ad libitum for three weeks and DW for 2 weeks. On the day 35, mice were sacrificed, sperm analysis was performed, and sera were collected to evaluate gonadotropins, testosterone, and toxicity parameters. The left testis was excised for stereological study and the right testis was used to evaluate androgen receptor (AR) gene expression. Results: The administration of BD1/2 significantly increased serum FSH (P=0.004), LH (P=0.025), testosterone (P=0.014), the percentage of motile (P=0.011); slow progressive (P=0.001), coiled tail (P<0.001) sperms, and the number of Leydig cells (P=0.008) compared to the control group. Treatment with BD1/4 significantly increased sperm count (P=0.044) and motile sperms percentage (P=0.040) compared to the control group too. The administration of BD revealed no significant effects on toxicity parameters and AR gene expression.Conclusion: The findings of the present study showed that the consumption of borage distillate, as a safe herbal remedy, improves hormonal and sperm parameters in male mice. https://ijms.sums.ac.ir/article_44978_e0670122b81301ef763fd7ceb1dd4a83.pdfShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-071644320190501Impact of the Polymorphism of the PACRG and CD80 Genes on the Development of the Different Stages of Tuberculosis Infection2362444497910.30476/ijms.2019.44979ENElena Yu.BraginaResearch Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia0000-0002-1103-3073Nadezhda P.BabushkinaResearch Institute of Medical Genetics, Tomsk NRMC, Tomsk, RussiaAnna F.GaraevaResearch Institute of Medical Genetics, Tomsk NRMC, Tomsk, RussiaAlexey A.RudkoResearch Institute of Medical Genetics, Tomsk NRMC, Tomsk, RussiaDmitry Yu.TsitrikovResearch Institute of Medical Genetics, Tomsk NRMC, Tomsk, RussiaDensema E.GomboevaResearch Institute of Medical Genetics, Tomsk NRMC, Tomsk, RussiaMaxim B.FreidinResearch Institute of Medical Genetics, Tomsk NRMC, Tomsk, RussiaJournal Article20170808Background: Tuberculosis (TB) is one of the most significant health-care problems worldwide. The host’s genetics play an important role in the development of TB in humans. The disease progresses through several stages, each of which can be under the control of different genes. The precise genes influencing the different stages of the disease are not yet identified. The aim of the current study was to determine the associations between primary and secondary TB and the polymorphisms of novel candidate genes for TB susceptibility, namely CD79A, HCST, CXCR4, CD4, CD80, CP, PACRG, and CD69.Methods: A total of 357 patients with TB (130 cases with primary TB and 227 cases with secondary TB) from the Siberian region of Russia as well as 445 healthy controls were studied. The study was performed at the Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia, between July 2015 and November 2016. Genotyping was carried out using MALDI-TOF mass spectrometry and PCR-RFLP. The associations between the single-nucleotide polymorphisms and TB were assessed using logistic regression adjusting for covariates (age and gender). Multiple testing was addressed via the experiment-wise permutation approach. The statistical significance threshold was a P value less than 0.05 for the permutation P values. The analyses were done in R 3.2 statistical software.Results: An association was established between the rs1880661 variant of the CD80 gene and secondary TB and the rs10945890 variant of the PACRG gene and both primary and secondary TB. However, the same allele of PACRG appeared to be both a risk factor for reactivation (secondary TB) and a protector against primary infection. Conclusion: The results suggested that the CD80 and PACRG genes were associated with susceptibility to different forms of TB infection in the Russian population.https://ijms.sums.ac.ir/article_44979_1298626b72f468f921eda9382e33e7ab.pdfShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-071644320190501Appropriateness of Congenital Hypothyroidism Screening Program in Fars Province, Iran: A Retrospective Study from 2005 to 20152452504498010.30476/ijms.2019.44980ENSoheilaShaghaghianCommunicable Diseases Unit, Shohada-e-Enghelab Health Center, Shiraz University of Medical Science, Shiraz, Iran0000-0002-3851-7684NazilaRahimiNon-Communicable Diseases Unit, Health Chancellor of Shiraz University of Medical Science, Shiraz, IranRazieh SadatMousavi-RoknabadiDepartment of Community Medicine, Faculty of Medicine, Shiraz University of Medical Science, Shiraz, Iran0000-0001-9483-8848FatemehAzadianNon-Communicable Disease Research Center, Shiraz University of Medical Science, Shiraz, IranBehnamNazemzadeganNon-Communicable Diseases Unit, Health Chancellor of Shiraz University of Medical Science, Shiraz, IranHamidrezaGhasempourShohada-e-Enghelab Health Center, Shiraz University of Medical Science. Shiraz, IranMohsenMoghadamiNon-Communicable Disease Research Center, Shiraz University of Medical Science, Shiraz, Iran0000-0001-8015-0313SoheilaKeshavarzCommunicable Diseases Unit, Shohada-e-Enghelab Health Center, Shiraz University of Medical Science, Shiraz, Iran0000-0002-6106-1371Journal Article20180701Congenital hypothyroidism (CH) may lead to irreversible mental retardation. To prevent the complication, screening was conducted routinely for all neonates in Iran. This study aimed to evaluate the appropriateness of CH screening programs in Fars province, southern Iran. This retrospective study (February–May, 2017) was conducted in the Health System Research Center of Shiraz University of Medical Sciences (SUMS). The data were obtained from the non-communicable diseases’ unit of SUMS regarding congenital hypothyroidism screening of all neonates born in Fars province from 2005 to 2015. We evaluated the coverage of CH screening, the incidence rate of CH, the percentage of the neonates screened for CH in ideal time, and neonates with CH treated in appropriate time. Descriptive statistics were used to determine the indices. To compare the incidence rate of boys and girls, we used Chi-square test. The coverage of CH screening in Fars Province increased from 50.0% in 2005 to 99.7% in 2015. Furthermore, the percentage of the neonates screened in the ideal time and the neonates with CH treated in an appropriate time increased from 26.0% and 78.0% in 2005 to 86.6% and 99.7% in 2015, respectively. In the evaluated period, the coverage of CH screening in Fars province (98.1%) was higher than that of the other provinces of Iran (83.0%). The study showed good screening coverage in Fars Province from 2005 to 2015. The coverage was considerably better than other provinces of Iran and improved during the study period. Also, over the course of time, more neonates were screened in an ideal time and treated in the appropriate time. https://ijms.sums.ac.ir/article_44980_001b28f1b3f305104eb8c7d77727c2ca.pdfShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-071644320190501Spontaneous Resolution of Symptomatic Thoracic Spine Calcified Disc Herniation: A Case Report and Literature Review2512564498110.30476/ijms.2019.44981ENAliBabashahiDepartment of Neurosurgery, Rasool Akram Hospital, Iran University of Medical Sciences, Tehran, Iran0000-0003-2884-0784MortezaTaheriDepartment of Neurosurgery, Iran University of Medical Sciences, Tehran, Iran0000-0001-5308-8040ParhamRabieeDepartment of Radiology, Lar University of Medical Sciences, Fars, IranJournal Article20171211Calcification of intervertebral disc (IVD) is an uncommon but well-defined clinical syndrome in children. Despite its benign nature, occasionally, calcified nucleus pulposus can herniate into the spinal canal. We report an interesting case of calcified disc herniation in the thoracic spine. Although it resulted in cord compression and syrinx formation, it well responded to conservative management. An 8-year-old girl presented with back pain and lower limbs hyperreflexia. The spinal imaging revealed that calcification within IVD, associated with huge calcified disc herniation on the T5/6, resulted in cord compression and syrinx formation within the spinal cord from T4/5 through T9/10. Despite cord compression and syrinx formation, the patient underwent conservative management. After a 6-month follow-up, the control imaging showed complete resolution of the calcified disc herniation and decreased syrinx size. In the patients with a calcified herniated IVD, in the absence of motor neurological deficit, conservative management consisting of bed rest, lifestyle adjustment, weight loss, and brace or collar wearing combined with a close follow-up can result in spontaneous regression of calcification, improvement of symptoms, and partial to complete resolution of the underlying pathology.https://ijms.sums.ac.ir/article_44981_5ef0f681fbc3645ac382557605eaa231.pdfShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-071644320190501Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report2572614498210.30476/ijms.2019.44982ENLorenaDíaz-OrdoñezCenter for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia0000-0002-3140-6332DianaRamirez-MontañoCenter for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, ColombiaEstephaniaCandeloCenter for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia0000-0003-3002-7071SantiagoCruzCenter for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia; and Department of Genetics, Fundación Valle del Lili, Cali, ColombiaHarryPachajoaDepartment of Genetics, Fundación Valle del Lili, Cali, Colombia0000-0003-2672-0439Journal Article20180501Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech delay, sleep disturbances, and dysmorphic craniofacial features. The whole exome sequencing (WES) test revealed a novel de novo heterozygous frameshift mutation in AHDC1. The present case report describes the second case of mutations in AHDC1 in a Latin American patient. A literature review showed that the clinical features were similar in all reported patients. The WES test enabled the identification of the causality of this disorder characterised by high clinical and genetic heterogeneity.https://ijms.sums.ac.ir/article_44982_963736a971a2580c4f033dd561e1435d.pdfShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-071644320190501Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report2622644498310.30476/ijms.2019.44983ENEhsanMoghanlooDepartment of Microbiology and Immunology, Faculty of Medicine, Kashan University of Medical Sciences, Kashan, Iran; and Cancer Research Center, Cancer Institute of Iran, Tehran University of Medical Science, Tehran, Iran;0000-0001-7932-606XZibaMorovvatiBiogene Medical and Genetic Laboratory, Tehran, IranMaghsoudSeifiDepartment of Biotechnology, Bu-Ali sina University, Hamedan, IranFatemehMinoochehrHuman Genetics Research Center, Baqiyatallah University of Medical Sciences, Tehran, IranSaeidMorovvatiHuman Genetics Research Center, Baqiyatallah University of Medical Sciences, Tehran, IranShahramTeimourianDepartment of Medical Genetics,
Iran University of Medical Sciences, Tehran, Iran0000-0001-6081-9972Journal Article20180610Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculomotor apraxia type 2, and the other was a carrier of the disorder. In 2016, the affected patient was referred to the Biogene Medical and Genetic Laboratory (Tehran, Iran) suffering from imbalance and tremor of both head and body. The coding regions of 18 genes, including the SETX gene, were screened. The target regions were captured using the NimbleGen chip followed by next-generation sequencing (NGS) technology on the Illumina Hiseq2500 platform. NGS, a DNA sequencing technology, has greatly increased the ability to identify new causes of ataxia; a useful tool for the prevention of primary manifestations and treatment of affected patients. In the present study, a novel mutation in the SETX gene has been identifiedhttps://ijms.sums.ac.ir/article_44983_348b9d17703b150ebf4b5fc114afc203.pdfShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-071644320190501A Small Meningioma with Extensive Peritumoral Brain Edema: A Case Report2652694498410.30476/ijms.2019.44984ENMaziarAzarDepartment of Neurosurgery, Rasool Akram Hospital, Iran University of Medical Sciences, Tehran, Iran0000-0003-3538-1512ArashFattahiDepartment of Neurosurgery, 7tir Hospital, Iran University of Medical Sciences, Tehran, Iran0000-0002-1874-6527AlirezaTabibkhooeiDepartment of Neurosurgery, Rasool Akram Hospital, Iran University of Medical Sciences, Tehran, IranMortezaTaheriDepartment of Neurosurgery, Rasool Akram Hospital, Iran University of Medical Sciences, Tehran, Iran0000-0001-5308-8040Journal Article20180401Meningioma is the second most common brain tumor. The extent of peritumoral brain edema (PTBE) is one of the important prognostic factors in patients with meningioma.A 55-year-old female patient suffering from a progressive severe headache and mild left hemiparesis was referred to the Department of Neurosurgery, Rasool Akram Hospital (Tehran, Iran). The preoperative imaging revealed a 2×2 cm solid extra-axial mass with bright enhancement at the outer third of the right sphenoid wing. In addition, there was a disproportionately extensive peritumoral brain edema in the right cerebral hemisphere that even involved the right internal capsule. The patient was operated through the right pterional approach and the mass was totally resected. Twenty-one days after surgery, the brain CT scan surprisingly showed only mild frontal edema and the patient was asymptomatic 1 year after the surgical treatment. According to the literature, the size and extension of the PTBE are correlated with the prognosis of meningioma. A larger edema is associated with a larger tumor, higher grade, and a more invasive meningioma with a higher recurrence rate. Our patient had a very large hemispheric PTBE which was disproportionate to the small size of the meningioma and the tumor had not directly invaded the adjacent brain tissue. We believe that the visible compression of the tumor on major veins of the Sylvian fissure was the reason for the PTBE in our patient. The presence of a large PTBE concomitant with a meningioma does not necessarily indicate a poor prognosis. Hence, we recommend a preoperative venogram to be performed in such patients.https://ijms.sums.ac.ir/article_44984_8659d9ad66375a5b0696e6768720fa93.pdf