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1.
Medical Journal of Mashad University of Medical Sciences. 2012; 55 (2): 69-75
in Persian | IMEMR | ID: emr-131405

ABSTRACT

Thalassemia major is a hereditary anemia that becomes blood transfusion dependent. Iron overload consequence leads to multiple organ dysfunction and endocrinopathy. So deferoxamine [desferal] is used for chelation therapy. The aim of this study was to evaluate the growth rate of these patients and its correlation with endocrine complications and determine the role of secondary iron overload in these situations. This cross-sectional study was performed for a year [2010] on 280 patients [aged 3.5- 56 years] who received blood transfusion and chelation therapy at Amirkola Thalassemia Center. After basic evaluations, determination of height standard deviation, they were divided by serum ferritin level into two groups [good and poorly controlled]. They were evaluated for hypothyroidism, diabetes mellitus, hypoparathyroidism and hypogonadism. Next, data were analyzed. A p <0.05 was considered significant. From 280 patients with mean age of 19.6 +/- 8.5 years, 161 [57.5%] cases were female, short stature [<-2 SDS] was present in 90 cases [32.1%]. Their mean height was 151.4 +/- 17.3 cm. 162 cases [57.9%] had endocrinopathy. There was a relationship between short stature and hypoparathyroidism [p= 0.009] and hypogonadism [p= 0.005] and also diabetes mellitus [p= 0.003]; but no relationship was found between short stature and hypothyroidism [p=1.000] and serum ferritin level [p=0.091]. According to higher prevalence of hypoparathyroidism, hypogonadism and diabetes mellitus in short statured thalassemic patients, screening should be done for such disorders with more sensitivity in these patients


Subject(s)
Humans , Male , Female , beta-Thalassemia , Dwarfism , Deferoxamine , Chelation Therapy , Cross-Sectional Studies , Body Height , Ferritins , Hypoparathyroidism , Hypogonadism , Diabetes Mellitus , Carpal Tunnel Syndrome
2.
Iranian Journal of Basic Medical Sciences. 2010; 13 (2): 40-47
in English | IMEMR | ID: emr-98813

ABSTRACT

Genetic background has known to be associated with the outcome of human T cell lymphotropic virus [HTLV] type I infection. In The present study we investigate the association between GM-CSF gene polymorphisms with the outcome of HTLV-I infection. We analyzed 3 single-nucleotide polymorphisms in the promter region of granulocyte macrophage colony stimulating factor [GM-CSF] at positions -677A/C, -1440A/G and -1916T/C in 68 patients with HTLV- I-associated myelopathy/tropical spastic paraparesis [HAM/TSP] and 77 HTLV-I-seropositive asymptomatic carriers and 175 healthy controls from an area in Iran, Mashhad, where HTLV-I is endemic. No significant differences were observed in the distribution of GM-CSF polymorphisms between HAM/TSP patients, HTLV-I carriers and healthy controls [P> 0.05]. The -611A/C polymorphism fall within the transcriptional enhancer factor-2 [TEF-2] binding site, so an electrophoretic mobility shift assay [EMSA] was performed to determine the effects of polymorphisms on protein binding to the GM-CSF promoter. The result showed a significantly higher binding efficiency of nuclear protein to the A allele compared with the C allele. Our study suggests that polymorphisms in the GM-CSF promoter is not associated with the outcome of HTLV-I infection, however, GM-CSF polymorphism at position -677 could indeed influence gene expression


Subject(s)
Humans , Male , Adult , Middle Aged , Aged , HTLV-I Infections , Polymorphism, Genetic
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