A Novel Mutation in Aspartoacylase Gene; Canavan Disease

How to Cite This Article: Ashrafi MR, Tavasoli AR, Katibeh P, Aryani O, Vafaee-Shahi M. A Novel Mutation In Aspartoacylase Gene; Canavan Disease. Iran J Child Neurol. Autumn 2015; 9(4): 54-57.AbstractObjectiveCanavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. Aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination and brain edema. Although CD is a very common in Ashkenazi Jews patients, several cases have been reported from non- Jewish population. This report is based on a homozygous C.202G>A mutation in the ASPA gene identified from an Iranian patient. To our knowledge, this type of mutation has not been reported in non-Jewish population in the literature

Non-alcoholic fatty liver disease is not independent risk factor for cardiovascular disease event : a cohort study

There are no consistent results between previous studies for an independent association between non-alcoholic fatty liver disease (NAFLD) and cardiovascular disease (CVD) events. To determine if there is an independent association between NAFLD and CVD events. In the present study, valid outcome data of 4808 subjects were available for phase 2 of our cohort study. These subjects had been followed up for seven years from phase 1, beginning in 2009-2010 to phase 2 during 2016-2017. Simple and multiple Cox proportional models were used to determine the association between NAFLD in the primary phase of the cohort and subsequent fatal and non-fatal CVD events during follow-up. The incidence of non-fatal CVD events in males with NAFLD was significantly higher ( = 0.004) than in males without NAFLD. A positive association was demonstrated between NAFLD and non-fatal CVD events in males (Hazard ratio = 1.606; 95%CI: 1.166-2.212; = 0.004) by the simple Cox proportional hazard model, but no independent association was detected between these in the multiple Cox models. No independent association was detected between NAFLD and CVD. It is likely that diabetes mellitus and age may be the principle mediators in this regard. [Abstract copyright: ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.

A population based study on hepatitis B virus in Northern Iran, Amol.

BACKGROUND: Viral hepatitis is a major health problem worldwide. Change in transmission patterns of hepatitis B makes it necessary to re-evaluate its prevalence and risk factors. OBJECTIVES: We aimed to determine the prevalence of HBV infection and its related risk factors in Amol city, Northern Iran. PATIENTS AND METHODS: As a population based study, a cluster sampling approach was used and 6146 individuals from the general population of urban and rural areas of Amol, Iran, from both genders and different ages were enrolled. Inclusion criteria were willingness to participate in the study, being a lifelong resident in Amol city or its surrounding areas with Iranian nationality. Ten milliliters (10 mL) of blood was taken from each study subject and checked regarding hepatitis B markers including HbsAg, HBsAb and HBcAb using a third generation ELISA. The prevalence of HBV infections and its potential risk factors were recorded. RESULTS: The prevalence of HBsAg, HBsAb and HBcAb were estimated as 0.9%, 30.7% and 10.5%, respectively. The mean age of all participants was 43.9 (95% CI: 43.4, 44.3) in females and 55.6 in (n = 3472) males. In our study, there was a significant association between family history of hepatitis, rural residency and presence of HBsAg. There was also a positive correlation between HBcAb and family history of hepatitis, history of other types of hepatic diseases, history of tattooing, traditional phlebotomy, male gender and age. In backward logistic regression, a significant association was found between history of hepatitis in first-degree family members (OR = 13.35; 95% CI: 6.26, 28.47) and place of residence (OR = 2.32; 95% CI: 1.27, 4.22) with presence of HBsAg. There was also a positive correlation between history of hepatitis among first-degree family members (OR = 2.49; 95% CI: 1.52, 4.08), history of tattooing (OR = 2.13; 95% CI: 1.33, 3.42), history of previous hepatitis (OR = 1.87; 95% CI: 1.06, 3.28), male sex (OR = 1.36; 95% CI: 1.12, 1.66) and age (OR = 1.03; 95% CI: 1.03, 1.04) with presence of HBcAb. CONCLUSIONS: The prevalence of hepatitis B in Amol City and its surrounding areas was about one percent, a lower rate than other reports from Iran

Normal Values of Nerve Conduction Studies in Children Aged 7 Days to 14 Years Referred to Electrodiagnosis Clinic of Iranian Children’s Medical Center

Background: The normal values of nerve conduction studies (NCS) are different in children compared to adults. Moreover, racial and geographical factors can affect these values. Objectives: The present study aimed to investigate the normal NCS values in children of different ages. Methods: The present cross-sectional study included children referred to the Electrodiagnosis Clinic of the Children’s Medical Center in Iran, who had normal NCS results based on the references and had no exclusion criteria. The patients were divided into 8 age groups (7 days to one month, 1 - 3 months, 3 - 6 months, 6 - 12 months, 1 - 2 years, 2 - 4 years, 4 - 6 years, and 6 - 14 years), and the NCS was performed using a Nihon Kohden electromyogram. The NCS values in the normal range were included in the analysis. Results: The normal ranges of amplitude and conduction velocity of 4 motor nerves (median, ulnar, deep peroneal, and tibial) and 2 sensory nerves (median and medial plantar), as well as the F-wave latency values of 2 nerves (ulnar and tibial), were established as the reference values for the pediatric patients. Conclusions: The NCS parameters of Iranian children were slightly different from the normal references reported by studies in other countries. Moreover, the SNAP and CMAP amplitudes and motor conduction velocity of these children usually reached the normal values of the adult population earlie

A population-based prospective study on obesity-related non-communicable diseases in northern Iran: rationale, study design, and baseline analysis

BackgroundIran is facing an epidemiological transition with the increasing burden of non-communicable diseases, such as obesity-related disorders and cardiovascular diseases (CVDs). We conducted a population-based prospective study to assess the prevalence and incidence rates of CVDs and obesity-related metabolic disorders and to evaluate the predictive ability of various CVD risk assessment tools in an Iranian population.MethodWe enrolled 5,799 participants in Amol, a city in northern Iran, in 2009–2010 and carried out the first repeated measurement (RM) after seven years (2016–2017). For all participants, demographic, anthropometric, laboratory, hepatobiliary imaging, and electrocardiography data have been collected in the enrollment and the RM. After enrollment, all participants have been and will be followed up annually for 20 years, both actively and passively.ResultsWe adopted a multidisciplinary approach to overcome barriers to participation and achieved a 7-year follow-up success rate of 93.0% with an active follow-up of 5,394 participants aged 18–90 years. In the RM, about 64.0% of men and 81.2% of women were obese or overweight. In 2017, about 16.2% and 5.2% of men had moderate or severe non-alcoholic fatty liver disease, while women had a significantly higher prevalence of metabolic syndrome (35.9%), and type 2 diabetes mellitus (20.9%) than men. Of 160 deceased participants, 69 cases (43.1%) died due to CVDs over seven years.ConclusionThe most prevalent obesity-related chronic disease in the study was metabolic syndrome. Across the enrollment and RM phases, women exhibited a higher prevalence of obesity-related metabolic disorders. Focusing on obesity-related metabolic disorders in a population not represented previously and a multidisciplinary approach for enrolling and following up were the strengths of this study. The study outcomes offer an evidence base for future research and inform policies regarding non-communicable diseases in northern Iran

The Value of Long-term Video EEG Monitoring to Diagnose and Track Childhood Epilepsy: video EEG monitoring in childhood Epilepsy

AbstractObjectives: Long-term video-EEG monitoring (LTM) is a new technique to assess and track fluctuations, classify seizures, identify epileptic syndromes, and determine the number of seizures and epilepsy-simulating disorders. The present study aims to evaluate the concordance of traditional EEG and LTM in assessing childhood epilepsy.Materials & MethodsThis cross-sectional before-after study was performed on 120 children with epilepsy who were referred to the Epilepsy Monitoring Unit (EMU) at the Children’s Medical Center between September 2021 and September 2022 and were monitored for at least eight hours in this unit. The source of the study information collection was the patients’ recorded files. A neurologist reviewed the primary EEGs, and two experts blindly reviewed and interpreted the patients’ LTMs under a clinical neurophysiologist’s supervision. ResultsThe diagnoses changed after employing LTM in most children with epilepsy. Based on the diagnostic agreement analysis between EEG and LTM, the coefficient value for LTM was calculated at -0.37 (p = 0.229), showing that LTM has significantly expanded patients’ diagnoses and care plans.ConclusionThe use of LTM improves the diagnosis, classification, and monitoring of epilepsy in affected children and can be a reliable supplement to EEG in some instance

The ability of the Framingham Steatosis Index (FSI) to predict Non-alcoholic Fatty Liver Disease (NAFLD) : a cohort study

Background: The utilization of indexes for the diagnosis of non-alcoholic fatty liver disease (NAFLD) can be valuable. This study was conducted to determine the ability of the Framingham steatosis index (FSI) to distinguish between people with NAFLD and those without and to predict people at risk of NAFLD to establish the need for lifestyle modifications in such individuals. Methods: Our study was conducted in two phases from 2009-2010 (phase I) to 2016-2017 (phase II). A total of 4670 people in northern Iran were included. NAFLD was diagnosed by ultrasound. The FSI was calculated based on age, sex, hypertension, diabetes mellitus status, liver enzyme levels and triglyceride levels. Receiver operating characteristic (ROC) analysis was conducted to determine the discriminatory and predictive abilities of the FSI. To remove the confounding effects of potential mediators, logistic regression was performed in which NAFLD was considered the outcome and the FSI as the predictor. Results: The odds ratios of the FSI when the outcome was the prevalence of NAFLD in phase I and when the outcome was new cases of NAFLD from 2009�2010 to 2016-2017 were 4.909 (4.243�5.681) and 2.453 (2.024�2.972), respectively (P < 0.001). The areas under the curve (AUCs) for the discriminatory and predictive abilities of the FSI were 0.8421 (95 CI: 0.8314�0.8527) and 0.7093 (95 CI: 0.6863�0.7322), respectively. Conclusion: The FSI has a strong ability to diagnose NAFLD while it has an acceptable ability to predict the occurrence of new cases of NAFLD. © 202

Scoring systems of metabolic syndrome and prediction of cardiovascular events : a population based cohort study

BACKGROUND AND AIMS: Continuous scoring systems were developed versus traditional dichotomous approaches to define metabolic syndrome. The current study was carried out to evaluate the ability of scoring systems to predict fatal and nonfatal cardiovascular events. MATERIALS AND METHODS: The data of 5147 individuals aged 18 years or more obtained from a population‐based cohort study were analyzed. The occurrence of atherosclerotic cardiovascular disease (ASCVD) in the period of 7 years follow‐up was considered as the associated outcome. Joint Interim Statement (JIS) definition, as a traditional definition of metabolic syndrome (MetS), and two versions of MetS scoring systems, based on standardized regression weights from structural equation modeling (SEM) and simple method for quantifying metabolic syndrome (siMS) were considered as potential predictors. RESULTS: The scoring systems, particularly, based on SEM, were observed to have a significant association with composite cardiovascular events (HR = 1.388 [95% CI = 1.153–1.670], p = .001 in men and HR = 1.307 [0.95% CI = 1.120–1.526] in women) in multiple Cox proportional hazard regression analyses, whereas the traditional definition of MetS did not show any significant association. While both two scoring systems showed acceptable predictive abilities for cardiovascular events in women (MetS score based on SEM: area of under curve [AUC] = 0.7438 [95% CI = 0.6195–0.7903] and siMS: AUC = 0.7207 [95% CI = 0.6676–0.7738]), the two systems were not acceptable for identifying risk in men. CONCLUSION: Unlike the dichotomous definition of MetS, the scoring systems showed an independent association with cardiovascular events. Scoring systems, particularly those based on SEM, may be useful for the prediction of cardiovascular events in women