mahan mahdavi | Islamic Azad University, Science and Research Branch (original) (raw)

Papers by mahan mahdavi

Thalassemia Reports, Jun 22, 2022

Case Reports in Genetics

Up to now, more than 300 pathogenic variants have been identified in the β-globin gene, some of w... more Up to now, more than 300 pathogenic variants have been identified in the β-globin gene, some of which are categorized as silent mutations that do not change the hematological indices. In the present study, our aim is to introduce the first report of a case with thalassemia intermedia with coinheritance of the c.315 + 1 G > A pathogenic variant and a silent variant (HBB: c.-19 G > C) that was missed during the screening program. Multiplex-Gap-PCR and Sanger sequencing methods were applied to identify α- and β-globin gene mutations in a 26-year-old male subject with diagnosis of thalassemia. The identified mutations were also checked on the parent’s sample. The CBC and capillary electrophoresis tests were performed on the parent’s blood samples. The case was compound heterozygote for the c.315 + 1 G > A and c.-19 G > C (rs1239893012) variants. The subject’s mother carried the c.-19 G > C variant in the β-globin gene while her CBC and electrophoresis test results showed ...

Thalassemia Reports

Background: Alpha thalassemia is one of the most common human genetic abnormalities. More than 40... more Background: Alpha thalassemia is one of the most common human genetic abnormalities. More than 400 different variations of the α-globin protein have been introduced, most of which are not associated with noticeable clinical manifestations. The identification of all variants of Hb in different regions helps in acquiring comprehensive knowledge concerning thalassemia disease, and it can be used in preventive programs as well as prenatal diagnosis (PND). Aims: In the present study, we describe a new α1 gene mutation that leads to a frameshift after codon 83. Methods: As a plan for a national screening program of thalassemia, routine cell blood count (CBC) and Hb capillary electrophoresis tests were applied. After taking written informed consent, genomic DNA was extracted, and, for identifying common Mediterranean α-Globin gene deletion, multiplex Gap-PCR was performed; for detecting other mutations on α- and β-Globin genes, a DNA sequencing method was used. Results: The results of CBC ...

Clinical Case Reports

SQSTM1 gene encodes a protein called p62 that acts as an autophagy receptor in the degradation of... more SQSTM1 gene encodes a protein called p62 that acts as an autophagy receptor in the degradation of protein molecules. A homozygous deletion variant that changes the frame shift in the SQSTM1 gene named c.790 Del A .T was detected in case childhood onset and progressive neurodegeneration with ataxia, and gaze palsy.

Thalassemia Reports

This is a report of a novel variant of the α1-globin gene—(α1) α51 Gly > Cys (CE9), c.154 GGC ... more This is a report of a novel variant of the α1-globin gene—(α1) α51 Gly > Cys (CE9), c.154 GGC > TGC, named Hb Mazandaran, which was observed in an Iranian family. This variant gives rise to a previously undescribed haemoglobin variant that was undetectable by capillary haemoglobin electrophoresis (CE). This variant was detected in two cases in combination with β-globin mutation, and it does not seem to be associated with severe haematological abnormalities in the carriers.

Cell Biochemistry and Function, 2022

Among the many polymers introduced for bone tissue engineering, natural polymers have more advant... more Among the many polymers introduced for bone tissue engineering, natural polymers have more advantages due to their high biocompatibility and biodegradability, despite their low mechanical properties. Herein, gelatin nanofibers with and without magnesium oxide (MgO) and graphene oxide (GO) nanoparticles were fabricated by electrospinning. The fabricated gelatin and gelatin/GO/MgO nanofibers were examined using scanning electron microscopy, protein adsorption, cell attachment and viability assays. The results revealed that biological behaviours of the gelatin nanofibers significantly improved while incorporated with MgO and GO nanoparticles. In the following, osteosupportive capacity of the fabricated scaffolds was investigated by Alizarin-red staining, alkaline phosphatase activity, and calcium content, and bone-related gene and protein assays. The results revealed that the highest osteogenic differentiation potential of human-induced pluripotent stem cells (hiPSCs) was detected while these cells were cultured on the gelatin/GO/MgO nanofibers. However, these makers in the hiPSCs cultured on the gelatin nanofibers were also significantly increased in comparison with the cells cultured on the tissue culture plates as a control. In conclusion, the results revealed that predictable disadvantages in gelatin nanofibers can be greatly improved by the addition of MgO and GO nanoparticles, and the resulting composite scaffold could be a potential candidate for use in bone tissue engineering.

European Journal of Ophthalmology

Background: Gyrate atrophy is a rare autosomal recessive inherited genetic disease. Progressive d... more Background: Gyrate atrophy is a rare autosomal recessive inherited genetic disease. Progressive deterioration of peripheral night vision and blindness are the foremost clinical manifestations of the disease caused by mutations of ornithine aminotransferase gene. Case: The presented case was an 18-year-old male referred for a progressive reduction of visual acuity, which started when the subject was 7 years old, blurred vision, and hypotonic muscles. Observations: The findings by liquid chromatography with tandem mass spectrometry and high-performance liquid chromatography methods exhibited a high level of ornithine: 248 μmol/L (reference range: 44–206 μmol/L) and 818 μmol/L (reference: 25–123 μmol/L), respectively. After genetic counseling and conducting further investigation, a novel mutation (c.425-1G>A) in ornithine aminotransferase gene was recognized through whole exome sequencing and the mutation was verified using Sanger sequencing method, which is associated with gyrate a...