Iranian Journal of Neurology最新文献

Background: As a T-cell mediated disease, multiple sclerosis (MS) pathogenesis might be associated with the immune system and its involved genes. TBX21, which encodes T-bet transcription factor, is a critical regulator of the commitment to the Th1 lineage and Interferon gamma (IFNγ) production. Investigation of the association of -1514T > C polymorphism located upstream of TBX21 gene with MS susceptibility is reasonable due to its demonstrated significant association with some other immune-mediated diseases. Methods: We analyzed the genotype frequencies of -1514T > C polymorphism between 248 Iranian patients with MS and 163 matched healthy controls. By applying polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)- technique, the single-strand conformation patterns of the amplicons were compared and sequenced. Results: Strong association between the wild -1514T allele and MS susceptibility was found with the allelic frequency of 99.6% in patients vs. 95.1% in controls (P = 0.002), and the CC genotype frequency of the TBX21 polymorphism (-1514T > C) reported potential protective effect against the disease (P = 0.014). Conclusion: The TBX21-1514T > C polymorphism confers possible protective effect on MS in Iranian population. Further comprehensive studies in different settings are required to clarify the exact role of TBX21 gene in MS disease.

Interferon beta (IFN-β) and glatiramer acetate (GA) are the primary therapeutic immunomodulatory agents that interfere with relapsing-remitting multiple sclerosis (RRMS), and the most commonly-used drugs as well. Induction or aggravation of other immune-mediated diseases has been reported following INF-β administration. We have reviewed the reported cases to notify the treating physicians about these rare adverse events. Although co-morbid autoimmune disorders have been reported in patients with MS, the pro-inflammatory role of disease-modifying drugs, especially INF-β, could affect and enhance this co-occurrence. Clinical or laboratory autoimmunity histories suggest the use of GA over INF-β as the treatment of choice.

Background: Patients with glioblastoma multiforme (GBM) are prone to various metabolic changes such as hypothyroidism. The present study was planned to assess the frequency of hypothyroidism in these patients. Methods: Fifty-two patients with GBM were included. All of them had been treated by tumor resection followed by cranial irradiation. Thyroid function was assessed by measurement of serum thyroid stimulating hormone (TSH), free thyroxin (FT4), and free triiodothyronine (FT3). Results: There were 33 men and 19 women. The average age was 52.4 ± 12.8 years. Among these, 32 (61%) had normal thyroid function test, whereas 4 (8%) had subclinical hypothyroidism, 5 (10%) had overt primary hypothyroidism, and 11 (21%) had secondary hypothyroidism. Sixteen patients (31%) needed thyroid hormone replacement therapy. Conclusion: Hypothyroidism is relatively prevalent in patients with treated GBM. Regular thyroid function test is advised to aid the introduction of appropriate hormone replacement therapy.

Background: About one third of patients with multiple sclerosis (MS) experience dysphagia. Dysphagia can cause complications such as malnutrition, lung infections, aspiration pneumonia and dehydration, thus it is very helpful to diagnose dysphagia as soon as possible. The aim in this study was to translate dysphagia in multiple sclerosis (DYMUS) questionnaire into Farsi and and validate it. Methods: Forward-backward method was used to translate original English version of DYMUS into farsi, and then the questionnaire (one for each patient) was filled in through asking questions from 200 patients with MS by a speech and language pathologist. Confirmatory factor analysis (CFA) was used to examine the construct validity. Internal consistency and test-retest reliability of the DYMUS were evaluated using Cronbach's alpha and the intraclass correlation coefficient (ICC), respectively. Results: CFA showed that a two-factor model of DYMUS including "dysphagia for solid" and "dysphagia for liquid" fitted the data well [relative chi-square [χ²/degree of freedom (df) = 1.55, CFI = 0.967, Tucker-Lewis index (TLI) = 0.957, root mean square error of approximation (RMSEA) = 0.053, and weighted root mean square residual (WRMR) = 0.874]. The Cronbach's alpha for total score and liquid and solid subscales were 0.776, 0.557, and 0.725, respectively. The DYMUS showed adequate test-retest reliability for the total and subscales (ICC: 0.880-0.956). Moreover, this study has shown a significant relationship between DYMUS score and Expanded Disability Status Scale (EDSS) score, disease duration, type of MS, and self-reported dysphagia. Conclusion: The Persian version of DYMUS is a reliable and valid tool to screen dysphagia among patients with MS.

Background: Multiple sclerosis (MS) is the most common neuroinflammatory disease in young adults. Anxiety and depression may predispose individuals to MS and flare-ups. Serotonin transmission is modified in some brain regions of patients with MS, and these changes may contribute to their psychiatric abnormalities. We studied the frequencies of common polymorphisms of the serotonin reuptake transporter (SERT) gene in patients with MS according to their psychological status. Methods: The 5-HTTLPR, rs25531, and STin2VNTR polymorphisms of the SERT gene were genotyped by polymerase chain reaction (PCR)-based methods in 100 patients with MS and 100 healthy controls. Results: There were no remarkable differences in SERT gene polymorphisms between patients with MS and healthy controls. Unlike the control group, 41% of the patients showed some degree of depression based on Beck Depression Inventory (BDI), but no association was observed between SERT gene polymorphisms after the patients were stratified by depression status. Conclusion: In addition to SERT gene polymorphisms, modulation of serotonin at the synapses may also be regulated by genetic variations in tryptophan hydroxylase type 2 and serotonin receptors. Further studies with functional brain imaging of the serotonergic system in patients with MS can provide information on the role of serotonin in this disease.