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Spontaneous intra-cerebral haemorrhage (SICH) is a relatively common neurological emergency, that is associated with significant morbidity and mortality. The goal of the present study was to estimate the neuro-imaging findings (initial CT scans), clinical presentation and possible risk factors in intra-cerebral haemorrhages."nMethods and Materials: The clinical and radiographic findings of 380 patients with intra-cerebral haemorrhage were analysed retrospectively. Patients with haemorrhage secondary to traumatism, brain tumour, or hemorrhagic infarction were excluded. 300 patients considered eligible for final analysis. All CT scans were evaluated to define the location and extension of bleeding."nResults: There were 160 men and 140 women, and the average age was 62 years, (range 26 to 87 years). The most common presenting symptom was consciousness (51 percent), headaches were present in 41.6 percent of patients, only 8.3 percent of patients were comatose at presentation. Location were lobar 36 percent, lenticular and thalamic 47 percent, possible risk factors included hypertension 60.3 percent anticoagulant treatment 9 percent and none 30.6 percent."nConclusion: Hypertension causes most cases, in which the SICH was located in the basal ganglia. Headaches were more commonly found in patients with cerebellar haemorrhage (70.3 percent). Intra-ventricular extension most frequently occurred in the thalamic haemorrhage and subarachnoid bleeding in lobar haemorrhage location. The majority of patients with SICH that resulted from hypertension were aged >45 years. The control of risk factors, particularly hypertension is crucial to prevention.

Reihane Mohammadi,1 Alisam Aryan,2 Mir Davood Omrani,1 Sayyed Mohammad Hossein Ghaderian,1 Zahra Fazeli1 1Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 2Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IranCorrespondence: Zahra FazeliDepartment of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IranEmail Z.Fazeli@sbmu.ac.irAbstract: Autologous hematopoietic stem cell transplantation (AHSCT) is considered as the novel approach to improve multiple sclerosis (MS) patients with disease-modifying therapies (DMTs)-resistance. The results obtained from different studies indicate that AHSCT increases the life quality of MS patients. Several factors are known to be influenced on the successful rate of AHSCT in patients with MS. The individuals aged < 40 years with a short duration of MS disease have been demonstrated to show a better response to AHSCT administration. Furthermore, this treatment approach was more effective in relapsing remitting MS (RRMS) patients than progressive MS (PMS). Different clinical trials revealed that AHSCT with a low density conditioning regimen could be suggested as a suitable candidate approach in the management of MS. Several molecular and cellular mechanisms are known to be involved in the resetting of the immune system following the AHSCT infusion in MS patients. These mechanisms play a role in the depletion of auto-reactive lymphocytes and immune system renewal. In the present review, we discuss different clinical and molecular aspects of AHSCT application in the alleviation of MS symptoms.Keywords: autologous hematopoietic stem cells, transplantation, multiple sclerosis, molecular mechanisms, resetting immune system

Congenital myasthenic syndrome (CMS) constitutes a group of inherited disorders of neuromuscular junctions. The majority of postsynaptic syndromes result from mutations in the CHRNE gene that causes muscle nicotine acetylcholine deficiency. In this study, we report on a 2 and a half-year-old boy with normal developmental milestones and bilateral ptosis. Clinical courses, electrophysiological studies and molecular genetic analysis were assessed. Polymerase chain reaction (PCR) and direct DNA sequencing of the CHRNE gene were performed for the proband and all the family members. A novel homozygous missense mutation of c.973G>T was found in the CHRNE gene. Segregation studies were suggested to be the genetic cause of the disease. Using three in silico tools and the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant classification guidelines indicated that the novel variant c.973G>T was likely pathogenic. Our results recommended first screening of the CHRNE gene for pathogenic mutations in Iranian origin.

Mohammad Taheri,1,* Ghazaleh Azimi,2,* Arezou Sayad,2 Mehrdokht Mazdeh,3 Shahram Arsang-Jang,4,5 Mir Davood Omrani,5 Soudeh Ghafori-Fard2 1Student Research Committee, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 2Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 3Neurophysiology Research Center, Hamadan University Medical Sciences, Hamadan, Iran; 4Clinical Research Development Center (CRDU), Qom University of Medical Sciences, Qom, Iran; 5Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran *These authors contributed equally to this work Objectives: Protein inhibitors of activated STAT (PIAS) are transcription co-regulator of the Janus kinase/signal transducer and activator of transcription signaling pathway as well as nuclear factor-κB family of transcription factors. Both of them are involved in cytokine release during inflammatory response. Patients and methods: Considering the role of cytokine imbalance in the pathogenesis of multiple sclerosis (MS), we compared blood expressions of PIAS1-4 genes in 48 interferon β (IFNβ)-treated MS patients with those of healthy subjects by means of real time PCR. Results: Although the expression levels of these genes were not significantly different between MS patients and healthy subjects, significant inverse correlations have been found between PIAS1 expression and age at disease onset. PIAS2 and PIAS3 expressions were inversely correlated with Expanded Disability Status Scale (EDSS) in patients. Moreover, PIAS3 expression was correlated with disease duration in patients and with age in controls. In addition, PIAS4 expression was inversely correlated with EDSS and age at disease onset while it was positively correlated with disease duration. Conclusion: The present study provides evidences for altered expression of PIAS genes in IFNβ-treated MS patients compared with healthy subjects. However, future studies are needed for elaboration of their exact function in this disorder. Keywords: multiple sclerosis, JAK/STAT pathway, protein inhibitors of activated STAT, PIAS

Arezou Sayad,1 Mohammad Taghi Akbari,2 Rezvan Noroozi,3 Mir Davood Omrani,1,4 Hidetoshi Inoko,5 Mohammad Taheri,6 Soudeh Ghafouri-Fard1 1Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 2Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran; 3Photochemistry Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 4Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 5Department of Molecular Life Science, Tokai University, Hiratsuka, Japan; 6Student Research Committee, Shahid Beheshti University of Medical Sciences, Tehran, Iran Background: Autism spectrum disorders (ASD) are a group of heterogeneous neurodevelopmental disorders known by impaired social interaction and activities and abnormal repetitive behavior. As a multifactorial disorder, several genetic and immunological factors have been shown to be implicated in its pathogenesis. Methods: Among them are certain human leukocyte antigen (HLA) alleles. In the current study, we genotyped HLA-A, -B & DRB alleles in 103 Iranian ASD patients and 180 age, gender, and ethnic-matched healthy controls. Results: After Boferroni correction no allele or haplotype was associated with genetic susceptibility to ASD in Iranian population. Conclusion: Future studies are needed to assess contribution of immunological factors such as HLA alleles in ASD pathogenesis. Keywords: autism, HLA typing, immune response

Vahid Kholghi Oskooei,1 Lobat Geranpayeh,2 Mir Davood Omrani,1 Soudeh Ghafouri-Fard1 1Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 2Department of Surgery, Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran Purpose: Vitamin D receptor (VDR) signaling pathway is implicated in the pathogenesis of breast cancer.Patients and methods: We selected VDR-associated long noncoding RNAs (lncRNAs) through an in silico analysis of available microarray and RNA-sequencing data and assessed their expression in 75 breast tumor samples and their adjacent noncancerous tissues (ANCTs). We also genotyped two functional polymorphisms within VDR gene in all patients.Results: VDR, MALAT1, and LINC00511 were significantly upregulated in tumoral tissues compared with ANCTs (fold change [FC] =1.85, P=0.03; FC =1.54, P=0.04; and FC =4.75, P=0.000, respectively). In patients younger than 55 years, significant associations were found between expression levels of both SNHG16 and LINC00511 genes and nuclear grade (P=0.03), expression of LINC00346 and tubule formation (P=0.01), expression of both SNHG16 and SNHG6 genes and family history of cancer (P=0.01 and 0.03, respectively), as well as expression of VDR and progesterone receptor status (P=0.03). We detected significant correlations between expression levels of VDR and SNHG16 in both tumoral tissues and ANCTs. The TT genotype of FokI polymorphism was associated with the higher expression levels of VDR. FokI variants were associated with expression levels of both MALAT1 and SNHG16 in ANCTs (P=0.01 and 0.03, respectively). CdxII variants were associated with expression levels of SNHG16 in ANCTs. A significant correlation was found between FC values of SNHG16 expression and vitamin D levels.Conclusion: The present study provides further evidence for the contribution of VDR signaling and the related lncRNAs in the pathogenesis of breast cancer and introduces some novel lncRNAs as putative molecules in the interactive functional network of VDR signaling in breast cancer. Keywords: breast cancer, MALAT1, SNHG16, SNHG6, LINC00346, LINC00511, VDR

Taheri M, Azimi G, Sayad A, et al. J Inflamm Res. 2018;11:457–463.On page 457, Author list and Correspondence, the last author’s name was misspelt. The correct name is Soudeh Ghafouri-Fard.Read the original article

Background and Objectives: Nasal congestion is a problem in which many person with migraine headache are involved and can induce misdiagnosis in these patients. Many of these patients with nasal congestion believe that the cause of their headache is due to the sinusitis. The purpose of this study was to determine the frequency of nasal congestion in episodes of migraine headache.Methods: This was a cross-sectional and descriptive study on 131 patients which were diagnosed by neurologists based on standard criteria to have had migraine. Sampling was done through non-probability in hand method. The data were gathered with regard to age, sex, type of headache and presence of nasal congestion for each patient. They were then analyzed by chi-square and Fisher’s exact test (p