Epilepsy is one of the most common neurological disorders. Studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. Mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types of this disease. Moreover, some chromosomal aberration including ring chromosomes will result in epilepsy. In this review, we intend to highlight the role of molecular genetic in etiology of epilepsy syndromes, inspect the most recent classification of International League against Epilepsy and discuss the role of genetic counseling and genetic testing in management of epilepsy syndromes. Furthermore, we emphasize on collaboration of neurologists and geneticists to improve diagnosis and management.
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegeneration involving motor neurons. The 3–5 years that patients have to live is marked by day-to-day loss of motor and sometimes cognitive abilities. Enormous amounts of healthcare services and resources are necessary to support patients and their caregivers during this relatively short but burdensome journey. Organization and management of these resources need to best meet patients' expectations and health system efficiency mandates. This can only occur in the setting of multidisciplinary ALS clinics which are known as the gold standard of ALS care worldwide. To introduce this standard to the care of Iranian ALS patients, which is an inevitable quality milestone, a national ALS clinical practice guideline is the necessary first step. The National ALS guideline will serve as the knowledge base for the development of local clinical pathways to guide patient journeys in multidisciplinary ALS clinics. To this end, we gathered a team of national neuromuscular experts as well as experts in related specialties necessary for delivering multidisciplinary care to ALS patients to develop the Iranian ALS clinical practice guideline. Clinical questions were prepared in the Patient, Intervention, Comparison, and Outcome (PICO) format to serve as a guide for the literature search. Considering the lack of adequate national/local studies at this time, a consensus-based approach was taken to evaluate the quality of the retrieved evidence and summarize recommendations.
Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy. It accounts 90% of all entrapment neuropathies all over the world. Ultrasound is a non-invasive, cost effective and available para-clinical method which could be applied for CTS diagnosis. Cross-sectional area of the median nerve at the level of the inlet is considered as a diagnostic criterion in CTS cases. In this study, thirty-eight patients with electrophysiologically confirmed idiopathic CTS and 22 healthy controls were enrolled. Seventy-one affected nerves and 42 unaffected nerves were evaluated within 14 days after electrophysiological examination. The largest cross-sectional area (CSA) was measured at the level of the carpal tunnel inlet and the maximum nerve perimeter was also recorded by means of the software. Mean CSA and perimeter were 14.02 ± 4.5 mm2 and 1.7±0.28m in all patients and 8.2±2.1 mm2, 1.3±0.19 m in controls (P<0.001, P<0.001). Mean CSA and Perimeter were significantly different between patient's groups and control. The best cut off point for CSA of the tunnel inlet was 10.5 mm2 with sensitivity and specificity of 80% and 76% (AUC (Area under the Curve) = 0.9, P<0.001). The best cut off point for inlet perimeter was 1.44 m with sensitivity and specificity of 85% and 77 % (AUC=0.87, P<0.001). Our findings showed that median nerve CSA at carpal tunnel inlet could be used as the diagnostic criteria for CTS.
Background: Urinary disorders are common problems in patients with multiple sclerosis (MS). Urinary incontinence largely affects the physical, social and emotional characteristics and activities of such patients. Objectives: The current study aimed to identify the effect of pelvic floor muscle training on urinary incontinence and its resulting stress, anxiety and depression in patients with MS. Methods: The present clinical trial with a pre-post design was conducted on 50 patients with MS referring to the MS clinic of Imam Khomeini hospital in Tehran, Iran, selected by convenience sampling method. Participants received instructions on pelvic floor muscle exercises and then practiced for three consecutive months. The international consultation on incontinence questionnaire-urinary incontinence short form (ICIQ-UI-SF) was used to measure participants' urinary incontinence, and the 21-item depression, anxiety and stress scale (DASS-21) to measure their depression, anxiety and stress, both before the intervention and at the end of the third month of exercising. The obtained data were analyzed by SPSS16 using descriptive statistics and the dependent t test. Results: About 45 (90%) participants practiced pelvic floor muscle exercises until the end of the third month. The frequency and amount of urine leakage and the effect of urinary incontinence on the quality of life differed significantly in the patients after the instructions compared to the status before the intervention (P < 0.001). The mean score of stress (P < 0.001), anxiety (P = 0.04) and depression (P = 0.003) decreased significantly after the intervention. Conclusions: According to the findings, instructing pelvic floor muscle exercises was effective in reducing urinary incontinence and its resulting stress, anxiety and depression in patients with MS. These exercises were recommended as a non-pharmacological, non-invasive and cost-effective method to control urinary incontinence in patients with MS.
Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage disorder. Several reports have previously described Pompe disease in Iran and considering increased awareness of related subspecialties and physicians, the disease's diagnosis is growing. Objective: This guideline's main objective was to develop a national guideline for Pompe disease based on national and international evidence adapting with national necessities. Methods: A group of expert clinicians with particular interests and experience in diagnosing and managing Pompe disease participated in developing this guideline. This group included adult neurologists, pediatric neurologists, pulmonologists, endocrinologists, cardiologists, pathologists, and physiatrists. After developing search terms, four authors performed an extensive literature review, including Embase, PubMed, and Google Scholar, from 1932 to current publications before the main meeting. Before the main consensus session, each panel member prepared an initial draft according to pertinent data in diagnosis and management and was presented in the panel discussion. Primary algorithms for the diagnosis and management of patients were prepared in the panel discussion. The prepared consensus was finalized after agreement and concordance between the panel members. Conclusion: Herein, we attempted to develop a consensus based on Iran's local requirements. The authors hope that disseminating these consensuses will help healthcare professionals in Iran achieve the diagnosis, suitable treatment, and better follow-up of patients with infantile-onset Pompe disease and late-onset Pompe disease.
Impaired quality of life (QOL) is an issue considered in patients with multiple sclerosis (MS). There are limited studies evaluated poor sleep and impaired QOL in these cases. The aim of this study was to evaluate quality of sleep and poor sleep in Iranian patients with MS and the relationship between Pittsburgh Sleep Quality Index (PSQI) score and QOL subscales.One-hundred and fourteen cases with definite MS due to MC Donald criteria enrolled who referred to MS clinic of Sina and Imam Hospitals were enrolled. Patients asked to fill valid and reliable Persian versions of PSQI and MSQOL-54 questionnaires. Demographic data (sex, age), duration of the disease, education level and marital status were extracted from patients medical files. After neurological examination, Kurtzke Expanded Disability Status Scale (EDSS) was assessed.Ninety-one (79.8%) patients were female and 23 (20.2%) were male. Mean age and EDSS was 34.7 ± 9.6 years and 2.3 (median: 1.5). Mean PSQI score and overall QOL score were 4.5 and 57. Sixty-seven cases were good sleepers (PSQI ≤ 5) and 47 were poor sleepers (PSQI > 5). Except five subscales, all others were significantly different between good and poor sleepers. There was significant positive correlation between PSQI score and EDSS (r = 0.24, P < 0.001) and negative correlation between EDSS and physical and mental health (r = -0.48, P < 0.001, r = -0.43, P < 0.001). EDSS and total PSQI score were independent predictors of physical and mental health composites.Sleep quality as a factor which affecting QOL should be considered and evaluated properly in MS patients.
Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with a variable age of onset. Nevertheless, the definitive validity of SPG12 remains to be confidently confirmed due to the scarcity of supporting evidence. In this study, we identified and validated seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven consanguineous families with distal hereditary motor neuropathy (dHMN) using exome, genome and Sanger sequencing coupled with deep-phenotyping. All affected individuals (seven males and seven females, aged 9-50 years) exhibited weakness in the distal upper and lower limbs, lower limb spasticity and hyperreflexia, with onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography. Despite a slowly progressive disease course, all patients remained ambulatory over a mean disease duration of 19.71 ± 13.70 years. Characterization of Caenorhabditis elegans RTN2 homologous loss-of-function variants demonstrated morphological and behavioural differences compared with the parental strain. Treatment of the mutant with an endoplasmic/sarcoplasmic reticulum Ca2+ reuptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences, suggesting a potential therapeutic benefit for RTN2-disorder. Despite RTN2 being an endoplasmic reticulum (ER)-resident membrane shaping protein, our analysis of patient fibroblast cells did not find significant alterations in ER structure or the response to ER stress. Our findings delineate a distinct form of autosomal recessive dHMN with pyramidal features associated with RTN2 deficiency. This phenotype shares similarities with SIGMAR1-related dHMN and Silver-like syndromes, providing valuable insights into the clinical spectrum and potential therapeutic strategies for RTN2-related dHMN.
Objective: The prevalence of migraine is higher in patients with gastrointestinal disorders. Possible underlying mechanisms could be increased intestinal permeability and systemic inflammation. Probiotics may reduce gut permeability as well as inflammation, and therefore may improve the clinical features of migraine. This systematic review and meta-analysis aimed to evaluate the impact of probiotic supplementation on the frequency and severity of migraine attacks.Methods: A systematic review of the literature was conducted using ISI Web of Science, PubMed/Medline, Scopus, Cochrane Library, EMBASE, Google Scholar, Magiran.com and Sid.ir to identify eligible studies published up to October 2019. A meta-analysis of eligible trials was performed using the random-effects model to estimate pooled effect size.Results: Three randomized controlled trials with 179 patients (probiotic group = 94, placebo group = 85) were included. Probiotic supplementation had no significant effect on frequency (weighted mean difference (WMD) = −2.54 attacks/month, 95%CI: −5.31–0.22, p = 0.071) and severity of migraine attacks (WMD = −1.23 visual analog scale (VAS) score, 95%CI = −3.37–0.92, p = 0.262) with significant heterogeneity among the studies (I2 = 98%, p < 0.001).Conclusions: A pooled analysis of available randomized controlled clinical trials showed that probiotic supplementation had no significant effect on the frequency and severity of episodic migraine attacks.
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