Measuring Serum Level of Ionized Magnesium in Patients with Migraine

How to Cite This Article: Assarzadegan F, Asadollahi M, Derakhshanfar H, Kashefizadeh A, Aryani O, Khorshidi M. Measuring Serum Level of Ionized Magnesium in Patients with Migraine. Iran J Child Neurol. Summer 2015;9(3):13-16.AbstractObjectiveMigraine is known as one of the most disabling types of headache. Among the variety of theories to explain mechanism of migraine, role of serum magnesium is of great importance. Serum magnesium, as a pathogenesis factor, was considerably lower in patients with migraine. We established this study to see if serum ionized magnesium, not its total serum level, was different in migraineurs from normal individuals.Materials & MethodsIn this case control study, all participants were recruited from Neurology Clinic of Imam Hossein Hospital, Tehran, Iran. Ninety-six people were entered in the study, 48 for each of case and control groups. The two groups were matched by age and sex. Migrainous patients were selected according to the criteria of International Headache Society. Various characteristics of headache were recorded based on patients’ report. Controls had no history of migraine or any significant chronic headaches. Serum ionized magnesium level was measured in both of the case and control groups and the results were compared to each other. P value of <0.05 was considered as significant.ResultsCase group consisted of 13 males, 35 females, and control group included 14 males, as well as 34 females. Mean age was 33.47± 10.32 yr for case and 30.45 ±7.12 yr for control group. Twenty-eight patients described the intensity of their headaches as moderate; 15 patients had severe and the 5 remainders had only mild headaches. Mean serum level of ionized Mg was 1.16± 0.08 in case group and 1.13± 0.11 in control group of no significant difference (P >0.05).ConclusionSerum ionized magnesium, which is the active form of this ion, was not significantly different in migraineurs and those without migraine. This may propose a revision regarding pathogenesis of migraine and question the role of magnesium in this type of headache

A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations

  Succinyl-CoA:3-oxoacid CoA-transferase (SCOT) deficiency is an inborn error of ketone body utilization characterized by intermittent ketoacidosis crises. This study reports the first Iranian patient with SCOT deficiency who presented with seizure and hypotonia at birth.Accordingly, she was consequently re-hospitalized due to hypotonia and respiratory distress. Laboratory tests revealed hyperammonemia, ketonuria, and metabolic acidosis. Besides, the plasma glucose level was normal without any other abnormality. Despite treatment with high-dose bicarbonate, severe acidosis persisted. Poor response to treatment raised a significant diagnostic challenge among specialists until genetic investigation identified a homozygous nonsense mutation (c.79G>T; p.Gly27*) in the OXCT1 gene (NM_000436), causing SCOT deficiency. Genetic studies help clinicians achieve a definite diagnosis of such metabolic disorders. In this case, the accurate and early diagnosis of SCOT deficiency opened new therapeutic possibilities, including frequent carbohydrate-rich meals and low fat and protein diet. Moreover, our findings expand the mutational and clinical spectrum of SCOT deficiency

Comparison of Peripapillary Retinal Nerve Fiber Layer Thickness in Patients with MS and Normal Population

Purpose: To compare peripapillary retinal nerve fiber layer thickness (RNFLT) between patients with multiple sclerosis (MS) and healthy controls using optical coherence tomography (OCT).  Patients and Methods: In this prospective case control study, peripapillary RNFLT of 120 eyes from 60 patients with multiple sclerosis (MS)  was compared to 120 eyes from 60 age and sex matched healthy controls using OCT.  The RNFLT in 4 peripapillary quadrants and the mean RNFLT of all four quadrants were compared between the case and control groups. The relation between MS variables such as age of onset, type and duration of disease, history of optic neuritis (ON) and other non-ocular episodes with RNFLT was evaluated in the case group. Results: The mean RNFLT of all four quarters was significantly lower in patients with MS compared to the controls (P < 0.001). Also RNFLT was significantly lower in each of 4 quadrants (superior, temporal, inferior; P < 0.001, nasal P = 0.003). There was no significant relation between RNFLT, the age of onset of MS disease, and history of non-ocular episodes. RNFLT had a significant relation with duration of the disease (P < 0.001), the type of MS (P < 0.001), history of ON (P = 0.002), and the number of ON episodes (P = 0.021). Conclusion: We found that RNFLT decreases in MS patients and its reduction is related to the duration and type of disease as well as history and number of ON episodes. Therefore measuring RNFLT may help in estimating the progress of MS and can potentially be included as a part of patients’ follow up protocol.Keywords: Multiple sclerosis;  Tomography; Optical Coherence;;Optic Neuritis; Retinal; Nerve Fibers

THE POSITION OF MOTION GRAPHIC IN COMMUNICATION MEDIA

ABSTRACT Visual media nowadays have an undeniable role in mentally guiding their audiences, and here, with the increasing role of modern media like TV, cinema, and internet, the role of motion graphics as a new tool is developing. Along with the development of such industries as advertisement, cinema, gaming, and music, motion graphics has reinforced its position in these industries and faces a hoping vision. Taking advantage of the techniques and special properties of motion graphics to achieve beneficial communication is highly important and justifies the necessity of research in this file

Determinants of Physical Activity among Middle School Girl Students in Iran Based on Social Cognitive Theory in 2018

Introduction: Physical activity is one of the most fundamental health promoting behaviors influenced by behavioral, environmental and individual determinants. The present study was conducted to determine the factors affecting physical activity among middle school girl students based on social cognitive theory in Rafsanjan city in 2018. The present cross-sectional study was carried out among 325 middle school girl students through multi-stage sampling; required data was collected using a questionnaire containing three sections of demographic characteristics, standard questionnaire of physical activity assessment during the last week and a questionnaire based on the constructs of cognitive social theory; questionnaires were completed through self-report and analyzed at the significance level of 0/05 by SPSS-16 using relevant statistical tests. The mean daily physical activity of students was 24.14 ± 26.42 minutes. Spearman correlation test showed a positive and significant relationship between daily physical activity of students with environmental factors, knowledge, behavioral skills, outcome expectation, outcome value, family support, friends support and self-efficacy of students (P<0.05). Self-efficacy was the strongest predictor of behavior among the structures of the theory. Considering the unfavorable state of physical activity and the results of research, it is highly recommended to design, implement and evaluate interventions based on social cognitive theory in different target groups affecting adolescents (family and friends) in order to increase the physical activity of girl students. &nbsp

Next generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families: two novel pathogenic variants in BBS9 gene

Abstract Objectives Bardet-Biedl syndrome (BBS) is an autosomal recessive pleiotropic ciliopathy, which includes multi-organ clinical manifestations. The known genes involved in the development of the disease account for the causality in about 80% of the examined cases. Materials & Methods We investigated two Iranian unrelated clinically diagnosed BBS patients, using a targeted next-generation sequencing panel consisting of 18 known BBS genes. The detected variants were investigated in the pedigree and studied using in silico tools for their pathogenicity. Patients’ phenotypes were also assessed. Results Novel homozygous variants were detected in BBS9 gene in each patient, c.2014C>T, p.Gln672Ter and c.673_674insAA, p.Gln225GlnfsX10. The variants were segregated in the corresponding pedigree and were authenticated to obtain enough evidence to be categorized as pathogenic variants. Conclusion Patients with truncating mutations in the same gene seem to show similar phenotypic features. Detection of novel and family-specific mutations is typically expected in the genetic hereditary diseases inIran, which can finally lead to prevent the recurrence of the disease in the consanguineous marriages

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy, characterized by a pathognomonic hindbrain malformation. All known JBTS-genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles essential for cellular signal transduction. Here, we use the recently identified JBTS-associated protein ARMC9 in tandem-affinity purification and yeast two-hybrid screens to identify a novel ciliary module whose dysfunction underlies JBTS. In addition to known JBTS-associated proteins CEP104 and CSPP1, we identify CCDC66 and TOGARAM1 as ARMC9 interaction partners. We show that TOGARAM1 variants cause JBTS and disrupt TOGARAM1 interaction with ARMC9. Using a combination of protein interaction analyses and characterization of patient-derived fibroblasts, CRISPR/Cas9-engineered zebrafish and hTERT-RPE1 cells, we demonstrate that dysfunction of ARMC9 or TOGARAM1 results in short cilia with decreased axonemal acetylation and polyglutamylation, but relatively intact transition zone function. Aberrant cold- and serum-induced ciliary loss in both ARMC9 and TOGARAM1 patient cell lines suggests a role for this new JBTS-associated protein module in ciliary stability