Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy

How to Cite This Article: Tavasoli AR, Rostami P, Ashrafi MR, Karimzadeh P. Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy. Iran J Child Neurol. Spring 2017; 11(2):57-60. AbstractObjectiveEthylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, and vascular lesions including petechial purpura, orthostatic acrocyanosis, and chronic hemorrhagic diarrhea. Biochemical hallmarks of the disease are persistently high level of lactate, and C4–C5-acylcarnitines in blood, markedly elevated urinary excretion of methylsuccinic and ethylmalonic (EMA) acids. Here we report two patients with EE as a 16-months-old male infant and a 2-yr-old boy referred to Pediatric Neurology Clinic in Children’s Medical Center, Tehran-Iran that in one patient genetic analysis revealed a homozygous mutation of the ETHE1 gene in favor of ethylmalonic acidemia. References 1. 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Association between HIC1 and RASSF1A Promoter Hypermethylation with MTHFD1 G1958A Polymorphism and Clinicopathological Features of Breast Cancer in Iranian Patients

. Abbreviations: Ras-associated domain family 1 (RASSF1A), hypermethylated in cancer (HIC1), methylene tetrahydrofolate dehydrogenase (MTHFD1), infiltrating ductal carcinoma (IDC), infiltrating lobular carcinoma (ILC), methylation-specific polymerase chain reaction (MSP), in vitro-methylated DNA (IVD), single nucleotide polymorphism (SNP), odds ratios (OR), confidence intervals (CI) ABSRACT Background: Ras-associated domain family 1 (RASSF1A) and hypermethylated in cancer (HIC1) genes are methylated more frequently in breast cancer. Genetic factors that alter the DNA methylation levels in normal and tumor tissues could therefore influence the susceptibility to this tumor phenotype. Objective: We determined the frequency of aberrant methylation of HIC1 and RASSF1A gene promoters and their association with methylene tetrahydrofolate dehydrogenase (MTHFD1) G1958A polymorphism and major clinical and pathological features of breast cancer in Iranian women. Methods: DNA was extracted from 81 primary breast tumors and 100 control blood samples. Gene promoter methylation was analyzed by methylationspecific polymerase chain reaction. Results: Eighty four percent of the breast cancer samples showed total methylation in at least one of two tested loci. We detected HIC1 hypermethylation in 79% of invasive and metastasis tumors and RASSF1A gene hypermethylation in 51% of them. We found no association between HIC1 and RASSF1A gene hypermethylation and MTHFD1 G1958A polymorphism, but a significant correlation between methylation of HIC1 and RASSF1A promoters was indicated (r = 0.24, P = 0.02). There was a combination between hypermethylation of HIC1 locus and nodal involvement in the studied population (p=0.03). We found a significant association between total methylation and nodal involvement (P = 0.01) as well as tumor size more than 2 cm in all cases (P = 0.02). Conclusion: Methylation of HIC1 and RASSF1A promoters can be used as epigenetic markers to detect the malignant progression of breast carcinoma in Iranian women patients

Effect of Vitamin D supplementation on weight loss, glycemic indices, and lipid profile in obese and overweight women: A clinical trial study

Introduction: Vitamin D (vit D) deficiency has defined as a health problem worldwide. World Health Organization (WHO) has declared that obesity is an epidemic of the 21st century. Previous studies have shown that obesity may increase the risk of Vit D deficiency. Furthermore, other studies have demonstrated that vit D insufficiency was accompanied with higher risk of type 2 diabetes, cardiovascular diseases, hypertension, and obesity. The aim of this study was to survey the effect of vit D supplementation on weight loss among overweight and obese women aged 20–40 years in Isfahan. Methods: This double-blind clinical trial was done on 50 overweight and obese women who were divided into two groups, in which one group received vit D supplements and the other group received placebo. Intervention group received vit D with dozes 50,000 IU/w for 6 weeks. The levels of total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-c), high-density lipoprotein cholesterol (HDL-c), fasting blood sugar (FBS), insulin (ins), homeostasis model assessment of ins resistance (IR), C-reactive protein (CRP), height, weight (WT), waist circumference (WC), hip circumference (HC), and blood pressure (BP) were measured before and after intervention. Results: After using vit D supplementation for 6 weeks, WT, WC, and body mass index (BMI) were decreased significantly and serum vit D increased significantly compared to control group (P 0.05). Conclusions: After 6 weeks of intervention, the means of WT, BMI, WC, and HC decreased significantly. Previous studies have shown that vit D deficiency was more prevalence in obese people and there was an inverse association among vit D with BMI and WC. The relationship between vit D and lipid profiles such as glycemic indexes, anthropometric indexes, CRP, and BP is not clear and needs more study in the future