Mohammad Pedram

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OBJECTIVE Nephropatic Cystinosis (NC) is a rare metabolic disorder due to mutation in the CTNS gene in which more than 90 different mutations have already been reported so far. This study was performed to investigate mutations of the CTNS gene and its promoter in a number of Iranian patients with NC. METHODS Polymerase chain reaction and direct sequencing(More)
β-Thalassemia (β-thal) is characterized by reduction or absence of β-globin gene expression. We describe the spectrum of mutations observed in a large cohort of β-thal carriers in Khuzestan, Southwest Iran. All together 1,241 blood samples from individuals with decreased mean corpuscular volume (MCV) and elevated Hb A(2) levels, were analyzed either by(More)
Although alpha-thalassemia (alpha-thal) is the most common hereditary hemoglobin (Hb) disorder in Iran, no comprehensive data are so far available on the prevalence of the disease in the province of Khuzestan in Southwest Iran. This study investigates the spectrum of alpha-thal mutations in this region. One hundred and twenty-one subjects from Khuzestan(More)
Rhabdomyosarcoma (RMS) is the most frequent soft tissue sarcoma in children. The aim of study was to retrospectively review the treatment results of childhood rhabdomyosarcoma and identify prognostic factors. 60 children with rhabdomyosarcoma treated between 1996 and 2002 in Shafa Hospital were reviewed. The data were analyzed for clinico-epidemiological(More)
To evaluate the prevalence of renal tubular dysfunction in children with β-thalassemia (β-T) major, we studied the glomerular and tubular function in 140 children with β-T major and compared them to a healthy control group at our center from May 2007 to April 2008. Fresh first morning samples were collected from each patient and analyzed for sodium,(More)
Background and Aim: Beta-thalassemia ( -thalassemia) is characterized by the reduced synthesis of the hemoglobin beta chain. Nowadays, more than 200 disease-causing mutations in beta-globin ( -globin) gene have been identified. Betathalassemia is the most common monogenic disease worldwide and one of the widespread hereditary disorders in Iran. Considering(More)
Background: The treatment of acute promyelocy!c leukemia with all-trans-re!noic acid (ATRA) some!mes results in a syndrome characterized by fever, respiratory distress, weight gain, pleural or pericardial effusion, and pulmonary infiltrates. We report the major clinical and radiologic features of ATRA syndrome. Materials and Methods: In the past, occasional(More)
Dystrophic epidermolysis bullosa is a heritable skin disorder with dominant and recessive genetic patterns. Numerous studies underline that both forms are caused by mutations of the COL7A1 gene, which encodes collagen type VII. It has been reported that most mutations detected in the recessive disease form are nonsense mutations or small insertions or(More)
Dear Editor, Beta Thalassemia major is a genetic disease with an autosomal recessive pattern and is differentiated by severe microcytic hypochromic hemolytic anemia with hepatosplenomegaly, ineffective erythropoiesis and bone marrow expansion. The β-globin (HBB) gene coding for β-chain expression is located on a 50 kb globin gene cluster on the short arm of(More)
Neuroblastoma is the third most common malignancy of childhood, after leukemia and brain tumors. Only 2% of all neuroblastoma occur in the brain. Primary cerebellar neuroblastoma is an specific subset of Primitive Neuroectodermal Tumors (PNET). Meduloblastoma is a relatively common and well-established entity, consisting of primitive and multipotential(More)