Objective Canavan 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 g...

To assess genetic diversity and maternal origin of Turkish and Iranian native chicken breeds, we analyzed the mtDNA D-loop sequences of 222 chickens from 2 Turkish (Denizli and Gerze) and 7 Iranian (White Marandi, Black Marandi, Naked Neck, Common Breed, Lari, West Azarbaijan, and New Hampshire) native chicken breeds, together with the available reference sequences of G. gallus gallus in GenBan...

INTRODUCTION Midline cleft of mandible, classified as Tessier 30 clefts is extremely rare, with less than 100 reported cases in the latest studies. Variations in severity and associated malformations have been reported before. CASE PRESENTATION In this report, we present the first documented Iranian case of Tessier 30 with median cleft of lower lip and bifid tongue concomitant with congenital...

We aimed to identify the genetic cause of coronary artery disease (CAD) in an Iranian pedigree. Genetic linkage analysis identified three loci with an LOD score of 2.2. Twelve sequence variations identified by exome sequencing were tested for segregation with disease. A p.Val99Met causing mutation in ST6GALNAC5 was considered the likely cause of CAD. ST6GALNAC5 encodes sialyltransferase 7e. The...

BACKGROUND Based on the current emphasis on competency-based education, as a part of need assessment phase of dental curriculum revision in Iran, in the present study the dental graduates' perspective concerning the minimum competency requirements for an Iranian general dentist has been investigated. METHODS Based on the three available major competency documents in the literature a questionn...

Background Hearing disorders are reported in thalassemia patients treated with deferoxamine. This study aimed to assess hearing loss in Iranian thalassemia major patients treated with deferoxamine. Methods This review article was designed based on PRISMA guidelines. To review the literature, two researchers studied national and international databases including Iranmedex, Magiran, Medlib, SID...

BACKGROUND The association of lichen planus with hepatitis C (HCV) has been widely reported in the literature. However, there are wide geographical variations in the reported prevalence of HCV infection in patients with lichen planus. This study was conducted to determine the frequency of hepatitis C in Iranian patients with lichen planus at Razi hospital, Tehran. METHODS During the years 199...

Adolescent Iranian girls are at high risk for physical inactivity due to cultural barriers such as restrictions regarding exercising in public and research is needed to explore ethnic and gender-related factors associated with physical activity (PA) participation. Using social cognitive theory as the guiding model, the purpose of this study was to test the fit and strength of barriers self-effi...